G9V (p.Gly9Val) variant of ACVRL1 (Activin receptor type-1-like)
G9V (p.Gly9Val) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G9V (p.Gly9Val) variant details
- p.Gly9Val
- gnomAD 12-51912500-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.30
- CADD 2.71
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available