D42A (p.Asp42Ala) variant of GCK (Hexokinase-4)
D42A (p.Asp42Ala) in GCK (Hexokinase-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
D42A (p.Asp42Ala) variant details
- p.Asp42Ala
- gnomAD rs866774967
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.53
- CADD 21.40
- PolyPhen-2 0.46
- SIFT 0.19
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available