S113G (p.Ser113Gly) variant of CASQ2 (Calsequestrin-2)
S113G (p.Ser113Gly) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
S113G (p.Ser113Gly) variant details
- p.Ser113Gly
- rs758425455
- ClinGen CA341764513
- ClinVar RCV002451805
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.97
- MetaLR 0.24
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available