L28I (p.Leu28Ile) variant of RYR1 (Ryanodine receptor 1)
L28I (p.Leu28Ile) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L28I (p.Leu28Ile) variant details
- p.Leu28Ile
- gnomAD 19-38440781-C-A
- Missense
- REVEL 0.35
- MetaLR 0.92
- MetaSVM 1.12
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.13
- Population evidence available
- Literature evidence available