F18del (p.Phe18del) variant of DES (Desmin)
F18del (p.Phe18del) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
F18del (p.Phe18del) variant details
- gnomAD 2-219418512-CCTT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 21.60
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available