A65V (p.Ala65Val) variant of G6PC1 (P35575)
A65V (p.Ala65Val) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- gnomAD 17-42901070-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.62
- MetaLR 0.55
- MetaSVM -0.12
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available