T51N (p.Thr51Asn) variant of RYR1 (Ryanodine receptor 1)
T51N (p.Thr51Asn) 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.
T51N (p.Thr51Asn) variant details
- p.Thr51Asn
- rs193922749
- ClinGen CA024282
- ClinVar RCV000119572
- ClinVar RCV000797515
- Uncertain significance
- Missense
- REVEL 0.77
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)