Q52H (p.Gln52His) variant of ACVR1 (Activin receptor type-1)
Q52H (p.Gln52His) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- gnomAD rs1266976280
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.40
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available