L40V (p.Leu40Val) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40V (p.Leu40Val) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L40V (p.Leu40Val) variant details
- p.Leu40Val
- gnomAD 14-61697929-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 10.90
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available