T26A (p.Thr26Ala) variant of RYR1 (Ryanodine receptor 1)
T26A (p.Thr26Ala) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
T26A (p.Thr26Ala) variant details
- p.Thr26Ala
- gnomAD 19-38440775-A-G
- Missense
- REVEL 0.38
- MetaLR 0.86
- MetaSVM 0.92
- CADD 23.10
- PolyPhen-2 0.11
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.8e-05)
- Literature evidence available