T26I (p.Thr26Ile) variant of RYR1 (Ryanodine receptor 1)
T26I (p.Thr26Ile) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
T26I (p.Thr26Ile) variant details
- p.Thr26Ile
- gnomAD 19-38440776-C-T
- Missense
- REVEL 0.62
- MetaLR 0.94
- MetaSVM 1.10
- CADD 23.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Literature evidence available