L114R (p.Leu114Arg) variant of CASQ2 (Calsequestrin-2)
L114R (p.Leu114Arg) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L114R (p.Leu114Arg) variant details
- p.Leu114Arg
- gnomAD rs1481852204
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.49
- MetaLR 0.22
- MetaSVM -0.62
- CADD 28.90
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available