V33L (p.Val33Leu) variant of G6PC1 (P35575)
V33L (p.Val33Leu) in G6PC1 (P35575) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
V33L (p.Val33Leu) variant details
- p.Val33Leu
- gnomAD 17-42900973-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.31
- MetaLR 0.45
- MetaSVM -0.30
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available