L50S (p.Leu50Ser) variant of RYR3 (Ryanodine receptor 3)
L50S (p.Leu50Ser) in RYR3 (Ryanodine receptor 3) is a missense change. The record also includes variant effect predictions and population frequency data.
L50S (p.Leu50Ser) variant details
- p.Leu50Ser
- gnomAD rs1311890024
- Missense
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)