A49S (p.Ala49Ser) variant of ACVRL1 (Activin receptor type-1-like)
A49S (p.Ala49Ser) 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.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- gnomAD 12-51913182-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.32
- CADD 4.88
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available
- Literature evidence available