L77H (p.Leu77His) variant of CASQ2 (Calsequestrin-2)
L77H (p.Leu77His) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L77H (p.Leu77His) variant details
- p.Leu77His
- Ensembl rs1432869286
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.73
- MetaLR 0.64
- MetaSVM 0.33
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available