Variants | Amino acid change | Polyphen-2a | SIFTb | PROVEANc | Mutation Tasterd | SNPs&GOe | FATHMM-MKLf | gnomADg | ExACh | 1000 Genomesi | ESP6500j |
---|---|---|---|---|---|---|---|---|---|---|---|
c.44C > G | p.P15R | Possibly damaging (0.924) | Damaging (0.015) | Deleterious (−7.30) | Disease causing (0.9999) | Disease (0.918) | Damaging (0.918) | 0 | 0 | 0 | 0 |