E6K (p.Glu6Lys) variant of RYR2 (Ryanodine receptor 2)
E6K (p.Glu6Lys) in RYR2 (Ryanodine receptor 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs1367258371
- TOPMed rs1367258371
- gnomAD rs1367258371
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.27
- MetaLR 0.77
- MetaSVM 0.14
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available