Q71H (p.Gln71His) variant of CASQ2 (Calsequestrin-2)
Q71H (p.Gln71His) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q71H (p.Gln71His) variant details
- p.Gln71His
- ExAC rs749547074
- TOPMed rs749547074
- gnomAD rs749547074
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.14
- MetaLR 0.02
- MetaSVM -0.93
- CADD 6.06
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available