S15S (p.Ser15Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S15S (p.Ser15Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S15S (p.Ser15Ser) variant details
- p.Ser15Ser
- rs1042773566
- gnomAD 14-61720391-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 12.70
- Most common in the HGDP:KARITIANA population (allele frequency 1)
- Structural context available
- Literature evidence available