L32F (p.Leu32Phe) variant of RYR1 (Ryanodine receptor 1)
L32F (p.Leu32Phe) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- rs138630815
- ClinGen CA024988
- ClinVar RCV000175618
- ClinVar RCV000721743
- Likely benign
- Missense
- REVEL 0.39
- MetaLR 0.80
- MetaSVM 0.30
- CADD 22.60
- PolyPhen-2 0.95
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)