Q82H (p.Gln82His) variant of CASQ2 (Calsequestrin-2)
Q82H (p.Gln82His) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q82H (p.Gln82His) variant details
- p.Gln82His
- TOPMed rs1048509293
- gnomAD rs1048509293
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.68
- MetaLR 0.49
- MetaSVM -0.37
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available