V28D (p.Val28Asp) variant of ACVR1 (Activin receptor type-1)
V28D (p.Val28Asp) in ACVR1 (Activin receptor type-1) 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.
V28D (p.Val28Asp) variant details
- p.Val28Asp
- Ensembl rs2105281465
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.31
- CADD 15.30
- Most common in the HGDP:SHE population (allele frequency 0.056)
- Structural context available