Q51H (p.Gln51His) variant of ACVR1 (Activin receptor type-1)
Q51H (p.Gln51His) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Q51H (p.Gln51His) variant details
- p.Gln51His
- gnomAD rs1320913728
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.36
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.19
- Population evidence available
- Structural context available