Y115C (p.Tyr115Cys) variant of CASQ2 (Calsequestrin-2)
Y115C (p.Tyr115Cys) in CASQ2 (Calsequestrin-2) 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 0.72 / 1. The record also includes population frequency data and structural context.
Y115C (p.Tyr115Cys) variant details
- p.Tyr115Cys
- rs1231549562
- TOPMed rs1231549562
- gnomAD rs1231549562
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.83
- MetaLR 0.65
- MetaSVM 0.40
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available