L61V (p.Leu61Val) variant of RYR1 (Ryanodine receptor 1)
L61V (p.Leu61Val) 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.
L61V (p.Leu61Val) variant details
- p.Leu61Val
- rs769890047
- ClinGen CA062460
- ClinVar RCV001321937
- ClinVar RCV006548124
- Uncertain significance
- Missense
- REVEL 0.67
- MetaLR 0.88
- MetaSVM 1.01
- CADD 21.70
- PolyPhen-2 0.24
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- 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)