L40S (p.Leu40Ser) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
L40S (p.Leu40Ser) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L40S (p.Leu40Ser) variant details
- p.Leu40Ser
- gnomAD 14-61697930-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 21.50
- SIFT 0.00
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available