E20V (p.Glu20Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
E20V (p.Glu20Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
E20V (p.Glu20Val) variant details
- p.Glu20Val
- gnomAD 14-61720405-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.47
- MetaLR 0.43
- MetaSVM -0.07
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available
- Literature evidence available