Y58H (p.Tyr58His) variant of RYR3 (Ryanodine receptor 3)
Y58H (p.Tyr58His) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
Y58H (p.Tyr58His) variant details
- p.Tyr58His
- gnomAD 15-33503631-T-C
- Missense
- MetaLR 0.93
- MetaSVM 0.99
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Literature evidence available