N8K (p.Asn8Lys) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
N8K (p.Asn8Lys) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- Ensembl rs2044106582
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.07
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.90
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available