F13S (p.Phe13Ser) variant of RYR2 (Ryanodine receptor 2)
F13S (p.Phe13Ser) in RYR2 (Ryanodine receptor 2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
F13S (p.Phe13Ser) variant details
- p.Phe13Ser
- gnomAD 1-237042557-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 26.50
- Population evidence available
- Structural context available
- Literature evidence available