D3N (p.Asp3Asn) variant of RYR2 (Ryanodine receptor 2)
D3N (p.Asp3Asn) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- TOPMed rs1182886482
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- MetaLR 0.78
- MetaSVM 0.37
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available