N8S (p.Asn8Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N8S (p.Asn8Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N8S (p.Asn8Ser) variant details
- p.Asn8Ser
- gnomAD 14-61695827-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.05
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.84
- Most common in the REMAINING population (allele frequency 0.0019)
- Structural context available
- Literature evidence available