G119S (p.Gly119Ser) variant of CASQ2 (Calsequestrin-2)
G119S (p.Gly119Ser) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G119S (p.Gly119Ser) variant details
- p.Gly119Ser
- TOPMed rs1648148540
- gnomAD rs1648148540
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.09
- CADD 24.30
- PolyPhen-2 0.48
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available