H5Q (p.His5Gln) variant of CASQ2 (Calsequestrin-2)
H5Q (p.His5Gln) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
H5Q (p.His5Gln) variant details
- p.His5Gln
- ExAC rs763716152
- TOPMed rs763716152
- gnomAD rs763716152
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.24
- MetaLR 0.09
- MetaSVM -0.96
- CADD 4.83
- PolyPhen-2 0.11
- SIFT 0.30
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available