H5R (p.His5Arg) variant of CASQ2 (Calsequestrin-2)
H5R (p.His5Arg) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H5R (p.His5Arg) variant details
- p.His5Arg
- Ensembl rs1649206902
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.19
- MetaLR 0.09
- MetaSVM -1.09
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.35
- Population evidence available
- Structural context available