S52P (p.Ser52Pro) variant of MECOM (Q03112)
S52P (p.Ser52Pro) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided.
S52P (p.Ser52Pro) variant details
- p.Ser52Pro
- cosmic curated COSV72111
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- UniProt: Uncertain significance