R28L (p.Arg28Leu) variant of ACVRL1 (Activin receptor type-1-like)
R28L (p.Arg28Leu) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R28L (p.Arg28Leu) variant details
- p.Arg28Leu
- gnomAD 12-51913120-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.16
- CADD 12.50
- PolyPhen-2 0.04
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available