Q76H (p.Gln76His) variant of ACVR1 (Activin receptor type-1)
Q76H (p.Gln76His) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Q76H (p.Gln76His) variant details
- p.Gln76His
- cosmic curated COSV55119
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.62
- CADD 18.10
- PolyPhen-2 0.26
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available