A6V (p.Ala6Val) variant of GCK (Hexokinase-4)
A6V (p.Ala6Val) in GCK (Hexokinase-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- TOPMed rs1344038635
- gnomAD rs1344038635
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.55
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Monogenic diabetes)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.2e-05)
- Structural context available