D3N (p.Asp3Asn) variant of RYR1 (Ryanodine receptor 1)
D3N (p.Asp3Asn) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
D3N (p.Asp3Asn) variant details
- p.Asp3Asn
- gnomAD 19-38433836-G-A
- Missense
- REVEL 0.33
- MetaLR 0.84
- MetaSVM 0.60
- CADD 25.90
- PolyPhen-2 0.32
- SIFT 0.03
- Population evidence available
- Literature evidence available