M1K (p.Met1Lys) variant of PMS2 (P54278)
M1K (p.Met1Lys) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colorectal neoplas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs587780059
- ClinGen CA011803
- ClinVar RCV000160895
- ClinVar RCV000212834
- Uncertain significance
- Hereditary nonpolyposis colon cancer; Hereditary nonpolyposis colorectal neoplas
- 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
- 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: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)