P26Q (p.Pro26Gln) variant of ACVRL1 (Activin receptor type-1-like)
P26Q (p.Pro26Gln) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P26Q (p.Pro26Gln) variant details
- p.Pro26Gln
- gnomAD 12-51913114-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- CADD 16.90
- PolyPhen-2 0.23
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available