V124G (p.Val124Gly) variant of ACVR1 (Activin receptor type-1)
V124G (p.Val124Gly) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V124G (p.Val124Gly) variant details
- p.Val124Gly
- TOPMed rs1278430564
- gnomAD rs1278430564
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available