G3V (p.Gly3Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G3V (p.Gly3Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- gnomAD 14-61695812-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.10
- CADD 21.50
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available