D80V (p.Asp80Val) variant of RELA (Transcription factor p65)
D80V (p.Asp80Val) in RELA (Transcription factor p65) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mucocutaneous ulceration, chronic.
D80V (p.Asp80Val) variant details
- p.Asp80Val
- TOPMed rs1856574149
- Uncertain significance
- Mucocutaneous ulceration, chronic
- Missense
- ClinVar: Uncertain significance (Mucocutaneous ulceration, chronic)
- UniProt: Uncertain significance