K11R (p.Lys11Arg) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K11R (p.Lys11Arg) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K11R (p.Lys11Arg) variant details
- p.Lys11Arg
- gnomAD 14-61695836-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the HGDP:KARITIANA population (allele frequency 1)
- Structural context available
- Literature evidence available