L34V (p.Leu34Val) variant of RYR1 (Ryanodine receptor 1)
L34V (p.Leu34Val) 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.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- rs1481959610
- ClinGen CA405671773
- ClinVar RCV001349894
- ClinVar RCV003992507
- Uncertain significance
- Missense
- REVEL 0.41
- MetaLR 0.71
- MetaSVM 0.12
- CADD 15.50
- PolyPhen-2 0.12
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)