M1V (p.Met1Val) variant of PMS2 (P54278)
M1V (p.Met1Val) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Lynch syndrome 4; Hereditary nonpolypos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs587779333
- ClinGen CA010642
- ClinVar RCV000076838
- ClinVar RCV000144649
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Lynch syndrome 4; Hereditary nonpolypos
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- MetaLR 0.47
- MetaSVM -0.58
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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: European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines… (PMID 34043773)