G9D (p.Gly9Asp) variant of ACVRL1 (Activin receptor type-1-like)
G9D (p.Gly9Asp) 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.
G9D (p.Gly9Asp) variant details
- p.Gly9Asp
- gnomAD 12-51912500-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.25
- CADD 2.82
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available