A16G (p.Ala16Gly) variant of ACVRL1 (Activin receptor type-1-like)
A16G (p.Ala16Gly) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- ExAC rs775260927
- gnomAD rs775260927
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.37
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.19
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available