F40S (p.Phe40Ser) variant of DES (Desmin)
F40S (p.Phe40Ser) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
F40S (p.Phe40Ser) variant details
- p.Phe40Ser
- rs2545246010
- ClinGen CA350683030
- ClinVar RCV003237203
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available