L45V (p.Leu45Val) variant of RYR1 (Ryanodine receptor 1)
L45V (p.Leu45Val) 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 not provided. The record also includes variant effect predictions and population frequency data.
L45V (p.Leu45Val) variant details
- p.Leu45Val
- rs1972639888
- ClinGen CA405672000
- ClinVar RCV003135868
- TOPMed rs1972639888
- Uncertain significance
- not provided
- Missense
- REVEL 0.80
- MetaLR 0.94
- MetaSVM 1.07
- CADD 24.90
- PolyPhen-2 0.65
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)