F12L (p.Phe12Leu) variant of RYR1 (Ryanodine receptor 1)
F12L (p.Phe12Leu) 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 and population frequency data.
F12L (p.Phe12Leu) variant details
- p.Phe12Leu
- rs370115856
- ClinGen CA308101671
- ClinVar RCV003593095
- ESP rs370115856
- Uncertain significance
- Malignant hyperthermia, susceptibility to, 1
- Missense
- REVEL 0.70
- MetaLR 0.88
- MetaSVM 0.88
- CADD 25.10
- SIFT 0.01
- 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 1.8e-06)