A49G (p.Ala49Gly) variant of ACVRL1 (Activin receptor type-1-like)
A49G (p.Ala49Gly) in ACVRL1 (Activin receptor type-1-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A49G (p.Ala49Gly) variant details
- p.Ala49Gly
- cosmic curated COSV66360
- TOPMed rs1169329926
- gnomAD rs1169329926
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.30
- CADD 13.00
- PolyPhen-2 0.04
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available