S5P (p.Ser5Pro) variant of ACVRL1 (Activin receptor type-1-like)
S5P (p.Ser5Pro) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 12-51912463-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available