T27K (p.Thr27Lys) variant of CASQ2 (Calsequestrin-2)
T27K (p.Thr27Lys) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T27K (p.Thr27Lys) variant details
- p.Thr27Lys
- ExAC rs773237428
- TOPMed rs773237428
- gnomAD rs773237428
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.13
- MetaLR 0.14
- MetaSVM -0.99
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.69
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available