K30K (p.Lys30Lys) variant of RYR2 (Ryanodine receptor 2)
K30K (p.Lys30Lys) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K30K (p.Lys30Lys) variant details
- p.Lys30Lys
- rs1366634657
- gnomAD 1-237270538-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 8.90
- Population evidence available
- Structural context available
- Literature evidence available