P44L (p.Pro44Leu) variant of ACVRL1 (Activin receptor type-1-like)
P44L (p.Pro44Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P44L (p.Pro44Leu) variant details
- p.Pro44Leu
- TOPMed rs1940731729
- gnomAD rs1940731729
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.34
- CADD 16.60
- PolyPhen-2 0.07
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available