P26S (p.Pro26Ser) variant of ACVRL1 (Activin receptor type-1-like)
P26S (p.Pro26Ser) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P26S (p.Pro26Ser) variant details
- p.Pro26Ser
- rs1442565422
- gnomAD rs1442565422
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.17
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available