M1? variant of PMS2 (P54278)
M1? in PMS2 (P54278) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
M1? variant details
- rs1554309086
- ClinGen CA366745251
- ClinVar RCV000519055
- ClinVar RCV000535555
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- MetaLR 0.44
- MetaSVM -0.49
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 0.99
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)