C81Y (p.Cys81Tyr) variant of ACVR1 (Activin receptor type-1)
C81Y (p.Cys81Tyr) in ACVR1 (Activin receptor type-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
C81Y (p.Cys81Tyr) variant details
- p.Cys81Tyr
- NCI-TCGA Cosmic COSV9971
- cosmic curated COSV99718
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.94
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available