F18F (p.Phe18Phe) variant of DES (Desmin)
F18F (p.Phe18Phe) in DES (Desmin) is a synonymous 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.
F18F (p.Phe18Phe) variant details
- p.Phe18Phe
- rs1420981881
- gnomAD 2-219418516-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.458
- CADD 14.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available