G112E (p.Gly112Glu) variant of CASQ2 (Calsequestrin-2)
G112E (p.Gly112Glu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G112E (p.Gly112Glu) variant details
- p.Gly112Glu
- ExAC rs777830959
- TOPMed rs777830959
- gnomAD rs777830959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.29
- MetaLR 0.11
- MetaSVM -0.98
- CADD 24.50
- PolyPhen-2 0.60
- SIFT 0.75
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available