R21P (p.Arg21Pro) variant of MSH2 (DNA mismatch repair protein Msh2)
R21P (p.Arg21Pro) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome 1; Hereditary nonpolyposis colorectal neoplasms. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
R21P (p.Arg21Pro) variant details
- p.Arg21Pro
- rs730881760
- ClinGen CA346728619
- ClinVar RCV001219934
- ClinVar RCV005055157
- Uncertain significance
- Lynch syndrome 1; Hereditary nonpolyposis colorectal neoplasms
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.76
- MetaSVM 0.61
- PolyPhen-2 0.03
- SIFT 0.06
- ClinVar: Uncertain significance (Lynch syndrome 1; Hereditary nonpolyposis colorectal neoplasms)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)
- Cited in: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. (PMID 20065170)