R26P (p.Arg26Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
R26P (p.Arg26Pro) 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 not provided; Endometrial carcinoma; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature and structural context.
R26P (p.Arg26Pro) variant details
- p.Arg26Pro
- rs780517196
- ClinGen CA360265219
- ClinVar RCV001956779
- ClinVar RCV004571764
- Uncertain significance
- not provided; Endometrial carcinoma; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- AlphaMissense 0.38
- MetaLR 0.63
- MetaSVM 0.16
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.31
- ClinVar: Uncertain significance (not provided; Endometrial carcinoma; Hereditary cancer-predispos)
- 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)