A41G (p.Ala41Gly) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
A41G (p.Ala41Gly) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A41G (p.Ala41Gly) variant details
- p.Ala41Gly
- gnomAD 14-61720468-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.37
- MetaLR 0.42
- MetaSVM -0.07
- CADD 23.90
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the HGDP:KARITIANA population (allele frequency 1)
- Structural context available
- Literature evidence available