E6D (p.Glu6Asp) variant of RYR2 (Ryanodine receptor 2)
E6D (p.Glu6Asp) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- TOPMed rs994965204
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.34
- MetaLR 0.73
- MetaSVM 0.02
- CADD 18.70
- PolyPhen-2 0.13
- SIFT 0.42
- Population evidence available
- Structural context available