K21I (p.Lys21Ile) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K21I (p.Lys21Ile) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
K21I (p.Lys21Ile) variant details
- p.Lys21Ile
- gnomAD 14-61697918-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 17.60
- SIFT 0.54
- Most common in the 1KG:CHS population (allele frequency 0.015)
- Structural context available
- Literature evidence available