F10C (p.Phe10Cys) variant of AQP1 (Aquaporin-1)
F10C (p.Phe10Cys) in AQP1 (Aquaporin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
F10C (p.Phe10Cys) variant details
- p.Phe10Cys
- rs2534992209
- ClinGen CA367147388
- ClinVar RCV004420007
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available