V94M (p.Val94Met) variant of CASQ2 (Calsequestrin-2)
V94M (p.Val94Met) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V94M (p.Val94Met) variant details
- p.Val94Met
- gnomAD rs1364367258
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.37
- MetaLR 0.22
- MetaSVM -0.75
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available