H86Q (p.His86Gln) variant of CASQ2 (Calsequestrin-2)
H86Q (p.His86Gln) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H86Q (p.His86Gln) variant details
- p.His86Gln
- rs2526032204
- ClinGen CA341765498
- ClinVar RCV002452889
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -0.96
- CADD 15.40
- PolyPhen-2 0.10
- SIFT 0.38
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available