A19P (p.Ala19Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
A19P (p.Ala19Pro) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma. The record also includes published literature and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- rs2546709873
- ClinGen CA360265147
- ClinVar RCV003041868
- ClinVar RCV003459706
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Endometri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)