L50W (p.Leu50Trp) variant of RYR3 (Ryanodine receptor 3)
L50W (p.Leu50Trp) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L50W (p.Leu50Trp) variant details
- p.Leu50Trp
- gnomAD 15-33473516-T-G
- Missense
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Literature evidence available