F18S (p.Phe18Ser) variant of DES (Desmin)
F18S (p.Phe18Ser) in DES (Desmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F18S (p.Phe18Ser) variant details
- p.Phe18Ser
- gnomAD 2-219418513-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available