K21E (p.Lys21Glu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K21E (p.Lys21Glu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- rs771610659
- gnomAD 14-61697917-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 14.30
- SIFT 0.20
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available