C52A (p.Cys52Ala) variant of NIPBL (Nipped-B-like protein)
C52A (p.Cys52Ala) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes population frequency data and structural context.
C52A (p.Cys52Ala) variant details
- p.Cys52Ala
- NCI-TCGA Cosmic COSV9924
- cosmic curated COSV99242
- TOPMed rs892645096
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available