S75T (p.Ser75Thr) variant of RYR3 (Ryanodine receptor 3)
S75T (p.Ser75Thr) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
S75T (p.Ser75Thr) variant details
- p.Ser75Thr
- gnomAD 15-33503682-T-A
- Missense
- MetaLR 0.97
- MetaSVM 1.10
- CADD 23.90
- PolyPhen-2 0.39
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Literature evidence available