S52I (p.Ser52Ile) variant of RYR1 (Ryanodine receptor 1)
S52I (p.Ser52Ile) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions and population frequency data.
S52I (p.Ser52Ile) variant details
- p.Ser52Ile
- ExAC rs756570405
- gnomAD rs756570405
- Missense
- REVEL 0.70
- MetaLR 0.95
- MetaSVM 1.04
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)