D17N (p.Asp17Asn) variant of RYR1 (Ryanodine receptor 1)
D17N (p.Asp17Asn) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions, population frequency data, and published literature.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- rs755878800
- ClinGen CA066584
- ClinVar RCV001044552
- ClinVar RCV002290569
- Uncertain significance
- Missense
- REVEL 0.75
- MetaLR 0.97
- MetaSVM 1.09
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Cited in: Clinical utility gene card for: Central core disease. (PMID 21989361)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)