F13F (p.Phe13Phe) variant of RYR2 (Ryanodine receptor 2)
F13F (p.Phe13Phe) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
F13F (p.Phe13Phe) variant details
- p.Phe13Phe
- gnomAD 1-237042560-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available