P44S (p.Pro44Ser) variant of ACVRL1 (Activin receptor type-1-like)
P44S (p.Pro44Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- ExAC rs779576094
- gnomAD rs779576094
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.22
- CADD 7.03
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available