R3C (p.Arg3Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
R3C (p.Arg3Cys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs774455792
- ClinGen CA3327415
- ClinVar RCV001059419
- ClinVar RCV002418511
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Endometrial carcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.37
- AlphaMissense 0.62
- MetaLR 0.67
- MetaSVM -0.07
- CADD 24.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Endometri)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)