S14N (p.Ser14Asn) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
S14N (p.Ser14Asn) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S14N (p.Ser14Asn) variant details
- p.Ser14Asn
- gnomAD 14-61697855-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- CADD 6.08
- Population evidence available
- Structural context available
- Literature evidence available