S15P (p.Ser15Pro) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S15P (p.Ser15Pro) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- gnomAD 14-61720389-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.49
- MetaLR 0.41
- MetaSVM -0.06
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Literature evidence available