L34F (p.Leu34Phe) variant of RYR1 (Ryanodine receptor 1)
L34F (p.Leu34Phe) 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 and population frequency data.
L34F (p.Leu34Phe) variant details
- p.Leu34Phe
- TOPMed rs1481959610
- gnomAD rs1481959610
- Uncertain significance
- Missense
- REVEL 0.40
- MetaLR 0.85
- MetaSVM 0.55
- CADD 18.50
- PolyPhen-2 0.28
- SIFT 0.41
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)