F18L (p.Phe18Leu) variant of DES (Desmin)
F18L (p.Phe18Leu) in DES (Desmin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
F18L (p.Phe18Leu) variant details
- p.Phe18Leu
- TOPMed rs1420981881
- gnomAD rs1420981881
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.55
- CADD 22.70
- PolyPhen-2 0.10
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available