T51I (p.Thr51Ile) variant of RYR1 (Ryanodine receptor 1)
T51I (p.Thr51Ile) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Malignant hyperthermia, susceptibility to, 1. The record also includes variant effect predictions, population frequency data, and published literature.
T51I (p.Thr51Ile) variant details
- p.Thr51Ile
- rs193922749
- ClinGen CA062078
- ClinVar RCV004009814
- ExAC rs193922749
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 1
- Missense
- REVEL 0.66
- MetaLR 0.91
- MetaSVM 0.84
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.60
- ClinVar: Uncertain significance (Malignant hyperthermia, susceptibility to, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)