V5M (p.Val5Met) variant of ACVR1 (Activin receptor type-1)
V5M (p.Val5Met) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- ExAC rs756630764
- TOPMed rs756630764
- gnomAD rs756630764
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.32
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available