D60Y (p.Asp60Tyr) variant of RYR1 (Ryanodine receptor 1)
D60Y (p.Asp60Tyr) 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 and published literature.
D60Y (p.Asp60Tyr) variant details
- p.Asp60Tyr
- rs118192160
- ClinGen CA405673698
- ClinVar RCV001591948
- ExAC rs118192160
- Pathogenic
- Missense
- AlphaMissense 0.94
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.65
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)
- Cited in: Nonsyndromic Malignant Hyperthermia Susceptibility. (PMID 20301325)