G29D (p.Gly29Asp) variant of ACVRL1 (Activin receptor type-1-like)
G29D (p.Gly29Asp) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- Ensembl rs1486689063
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.47
- CADD 0.23
- PolyPhen-2 0.00
- SIFT 0.74
- Population evidence available
- Structural context available