M1R (p.Met1Arg) variant of PMS2 (P54278)
M1R (p.Met1Arg) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs587780059
- ClinGen CA10578738
- ClinVar RCV000219633
- ClinVar RCV000458145
- Uncertain significance
- not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- MetaLR 0.64
- MetaSVM 0.01
- PolyPhen-2 0.79
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Lynch Syndrome. (PMID 20301390)