V62A (p.Val62Ala) variant of GCK (Hexokinase-4)
V62A (p.Val62Ala) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- rs1444739794
- ClinGen CA367403278
- ClinVar RCV000711769
- ClinVar RCV003480800
- Pathogenic
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.97
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.02
- CADD 27.30
- PolyPhen-2 0.02
- ClinVar: Pathogenic (Monogenic diabetes)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available