S5A (p.Ser5Ala) variant of ACVRL1 (Activin receptor type-1-like)
S5A (p.Ser5Ala) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- rs199658995
- gnomAD 12-51912463-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available