L31P (p.Leu31Pro) variant of ACVRL1 (Activin receptor type-1-like)
L31P (p.Leu31Pro) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L31P (p.Leu31Pro) variant details
- p.Leu31Pro
- ExAC rs764616695
- gnomAD rs764616695
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.56
- CADD 23.70
- PolyPhen-2 0.68
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available