L34I (p.Leu34Ile) variant of RYR1 (Ryanodine receptor 1)
L34I (p.Leu34Ile) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L34I (p.Leu34Ile) variant details
- p.Leu34Ile
- gnomAD 19-38440799-C-A
- Missense
- REVEL 0.40
- MetaLR 0.83
- MetaSVM 0.39
- CADD 18.80
- PolyPhen-2 0.40
- SIFT 0.35
- Most common in the South Asian population (allele frequency 0.00044)
- Literature evidence available