Q13S (p.Gln13Ser) variant of RYR3 (Ryanodine receptor 3)
Q13S (p.Gln13Ser) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
Q13S (p.Gln13Ser) variant details
- p.Gln13Ser
- gnomAD 15-33311080-TC-T
- Frameshift
- CADD 33.00
- Population evidence available
- Literature evidence available