D61V (p.Asp61Val) variant of ACVR1 (Activin receptor type-1)
D61V (p.Asp61Val) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
D61V (p.Asp61Val) variant details
- p.Asp61Val
- ExAC rs748590407
- gnomAD rs748590407
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.74
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available