F40F (p.Phe40Phe) variant of DES (Desmin)
F40F (p.Phe40Phe) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
F40F (p.Phe40Phe) variant details
- p.Phe40Phe
- rs1954363921
- gnomAD 2-219418582-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.40
- Population evidence available
- Structural context available
- Literature evidence available