D22Y (p.Asp22Tyr) variant of ACVRL1 (Activin receptor type-1-like)
D22Y (p.Asp22Tyr) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D22Y (p.Asp22Tyr) variant details
- p.Asp22Tyr
- gnomAD 12-51913101-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.33
- CADD 10.90
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available