K31E (p.Lys31Glu) variant of CASQ2 (Calsequestrin-2)
K31E (p.Lys31Glu) 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 0.29 / 1. The record also includes population frequency data and structural context.
K31E (p.Lys31Glu) variant details
- p.Lys31Glu
- rs1649204915
- ClinGen CA341767280
- ClinVar RCV002378950
- TOPMed rs1649204915
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -0.98
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available