C36Y (p.Cys36Tyr) variant of ACVRL1 (Activin receptor type-1-like)
C36Y (p.Cys36Tyr) in ACVRL1 (Activin receptor type-1-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C36Y (p.Cys36Tyr) variant details
- p.Cys36Tyr
- rs2540158303
- ClinGen CA384897542
- ClinVar RCV002424385
- Likely pathogenic
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.88
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cardiovascular phenotype)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available