L10S (p.Leu10Ser) variant of ACVRL1 (Activin receptor type-1-like)
L10S (p.Leu10Ser) in ACVRL1 (Activin receptor type-1-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L10S (p.Leu10Ser) variant details
- p.Leu10Ser
- rs764143924
- gnomAD 12-51912456-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.188
- CADD 6.31
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available