L10H (p.Leu10His) variant of ACVRL1 (Activin receptor type-1-like)
L10H (p.Leu10His) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L10H (p.Leu10His) variant details
- p.Leu10His
- gnomAD 12-51912458-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 12.80
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available