R17P (p.Arg17Pro) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
R17P (p.Arg17Pro) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R17P (p.Arg17Pro) variant details
- p.Arg17Pro
- gnomAD 14-61720396-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.53
- MetaLR 0.44
- MetaSVM -0.06
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available