V50M (p.Val50Met) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
V50M (p.Val50Met) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- gnomAD 14-61720494-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.28
- MetaLR 0.20
- MetaSVM -0.57
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available