L10R (p.Leu10Arg) variant of ACVRL1 (Activin receptor type-1-like)
L10R (p.Leu10Arg) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- rs79549769
- gnomAD 12-51912458-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 12.80
- Most common in the HGDP:MBUTI population (allele frequency 0.21)
- Structural context available
- Literature evidence available