T35A (p.Thr35Ala) variant of ACVRL1 (Activin receptor type-1-like)
T35A (p.Thr35Ala) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- gnomAD 12-51913140-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.23
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available