C63F (p.Cys63Phe) variant of UMOD (Uromodulin)
C63F (p.Cys63Phe) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
C63F (p.Cys63Phe) variant details
- p.Cys63Phe
- rs2507390949
- ClinGen CA394987561
- ClinVar RCV003048681
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available