D24Y (p.Asp24Tyr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
D24Y (p.Asp24Tyr) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
D24Y (p.Asp24Tyr) variant details
- p.Asp24Tyr
- cosmic curated COSV10004
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.42
- CADD 29.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available