L70M (p.Leu70Met) variant of RYR3 (Ryanodine receptor 3)
L70M (p.Leu70Met) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
L70M (p.Leu70Met) variant details
- p.Leu70Met
- rs766554588
- ExAC rs766554588
- gnomAD rs766554588
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.96
- MetaSVM 1.08
- CADD 23.70
- PolyPhen-2 0.75
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)