H40Y (p.His40Tyr) variant of ACVRL1 (Activin receptor type-1-like)
H40Y (p.His40Tyr) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H40Y (p.His40Tyr) variant details
- p.His40Tyr
- gnomAD 12-51913155-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.27
- CADD 4.76
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available