T17T (p.Thr17Thr) variant of RYR3 (Ryanodine receptor 3)
T17T (p.Thr17Thr) in RYR3 (Ryanodine receptor 3) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
T17T (p.Thr17Thr) variant details
- p.Thr17Thr
- gnomAD 15-33311096-T-C
- Splice Region
- CADD 18.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Literature evidence available