L10P (p.Leu10Pro) variant of ACVRL1 (Activin receptor type-1-like)
L10P (p.Leu10Pro) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L10P (p.Leu10Pro) variant details
- p.Leu10Pro
- gnomAD 12-51912458-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 12.50
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available