E41Q (p.Glu41Gln) variant of RYR3 (Ryanodine receptor 3)
E41Q (p.Glu41Gln) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
E41Q (p.Glu41Gln) variant details
- p.Glu41Gln
- TOPMed rs1383625599
- gnomAD rs1383625599
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.80
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)