D18N (p.Asp18Asn) variant of RYR2 (Ryanodine receptor 2)
D18N (p.Asp18Asn) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- gnomAD 1-237270500-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.86
- MetaLR 0.92
- MetaSVM 1.02
- CADD 29.20
- PolyPhen-2 0.82
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available