R20K (p.Arg20Lys) variant of MSH3 (DNA mismatch repair protein Msh3)
R20K (p.Arg20Lys) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R20K (p.Arg20Lys) variant details
- p.Arg20Lys
- rs1580537787
- ClinGen CA360265156
- ClinVar RCV000820855
- ClinVar RCV002352453
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.43
- AlphaMissense 0.09
- MetaLR 0.53
- MetaSVM 0.05
- CADD 19.80
- PolyPhen-2 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Endometri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)