S14I (p.Ser14Ile) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S14I (p.Ser14Ile) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S14I (p.Ser14Ile) variant details
- p.Ser14Ile
- gnomAD rs1381507939
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.37
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MANDENKA population (allele frequency 0.33)
- Structural context available