P26A (p.Pro26Ala) variant of ACVRL1 (Activin receptor type-1-like)
P26A (p.Pro26Ala) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P26A (p.Pro26Ala) variant details
- p.Pro26Ala
- gnomAD 12-51913113-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.22
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available