T15T (p.Thr15Thr) variant of RYR1 (Ryanodine receptor 1)
T15T (p.Thr15Thr) in RYR1 (Ryanodine receptor 1) is a protein-truncating change. The record also includes variant effect predictions, population frequency data, and published literature.
T15T (p.Thr15Thr) variant details
- p.Thr15Thr
- rs200117623
- gnomAD 19-38433874-G-A
- Splice Region
- CADD 23.80
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available