S33N (p.Ser33Asn) variant of MSH3 (DNA mismatch repair protein Msh3)
S33N (p.Ser33Asn) in MSH3 (DNA mismatch repair protein Msh3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S33N (p.Ser33Asn) variant details
- p.Ser33Asn
- rs1489972731
- ClinGen CA360265293
- ClinVar RCV001209776
- ClinVar RCV002379796
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.17
- AlphaMissense 0.07
- MetaLR 0.41
- MetaSVM -0.69
- CADD 15.90
- PolyPhen-2 0.28
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Endometri)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)