C42G (p.Cys42Gly) variant of ACVR1 (Activin receptor type-1)
C42G (p.Cys42Gly) in ACVR1 (Activin receptor type-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
C42G (p.Cys42Gly) variant details
- p.Cys42Gly
- cosmic curated COSV55118
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.91
- CADD 27.30
- PolyPhen-2 0.90
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available