Q82R (p.Gln82Arg) variant of CASQ2 (Calsequestrin-2)
Q82R (p.Gln82Arg) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
Q82R (p.Gln82Arg) variant details
- p.Gln82Arg
- ExAC rs747587377
- TOPMed rs747587377
- gnomAD rs747587377
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.67
- MetaLR 0.50
- MetaSVM -0.32
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available