G10W (p.Gly10Trp) variant of CASQ2 (Calsequestrin-2)
G10W (p.Gly10Trp) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G10W (p.Gly10Trp) variant details
- p.Gly10Trp
- gnomAD rs1224922092
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.34
- MetaLR 0.35
- MetaSVM -0.57
- CADD 23.90
- PolyPhen-2 0.82
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available