E41K (p.Glu41Lys) variant of RYR3 (Ryanodine receptor 3)
E41K (p.Glu41Lys) 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.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- NCI-TCGA Cosmic COSV6680
- cosmic curated COSV66805
- TOPMed rs1383625599
- gnomAD rs1383625599
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- CADD 29.60
- PolyPhen-2 0.86
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)