A49D (p.Ala49Asp) variant of ACVRL1 (Activin receptor type-1-like)
A49D (p.Ala49Asp) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A49D (p.Ala49Asp) variant details
- p.Ala49Asp
- gnomAD 12-51913183-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.33
- CADD 11.20
- PolyPhen-2 0.00
- SIFT 0.63
- Population evidence available
- Structural context available
- Literature evidence available