H40H (p.His40His) variant of ACVRL1 (Activin receptor type-1-like)
H40H (p.His40His) in ACVRL1 (Activin receptor type-1-like) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H40H (p.His40His) variant details
- p.His40His
- rs745507845
- gnomAD 12-51913157-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.11
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available