V124A (p.Val124Ala) variant of ACVR1 (Activin receptor type-1)
V124A (p.Val124Ala) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V124A (p.Val124Ala) variant details
- p.Val124Ala
- TOPMed rs1278430564
- gnomAD rs1278430564
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available