D60N (p.Asp60Asn) variant of RYR1 (Ryanodine receptor 1)
D60N (p.Asp60Asn) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions, population frequency data, and published literature.
D60N (p.Asp60Asn) variant details
- p.Asp60Asn
- rs118192160
- ClinGen CA024309
- NCI-TCGA Cosmic COSV6208
- NCI-TCGA Cosmic COSV6209
- Pathogenic
- Missense
- REVEL 0.74
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.09
- CADD 26.50
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-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)