G6S (p.Gly6Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
G6S (p.Gly6Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs1449589520
- gnomAD 14-61697902-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 16.60
- SIFT 0.10
- Most common in the HGDP:DAI population (allele frequency 0.22)
- Structural context available
- Literature evidence available