S34S (p.Ser34Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S34S (p.Ser34Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S34S (p.Ser34Ser) variant details
- p.Ser34Ser
- rs1471380569
- gnomAD 14-61720448-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available