From: Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Gene
cDNA
Protein
Mutation Taster
Provean
CADD Score
GERP_RS
VPS53
c.C605T
p.P202L
Disease_causing
Deleterious
10
3.83
GLB1
c.C1318T
p.H440Y
30
5.35
MLC1
c.C959A
p.T320K
29.9
3.9