E2V (p.Glu2Val) variant of PMS2 (P54278)
E2V (p.Glu2Val) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lynch syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
E2V (p.Glu2Val) variant details
- p.Glu2Val
- rs876658233
- ClinGen CA366745244
- ClinVar RCV000573402
- ClinVar RCV004000895
- Uncertain significance
- Lynch syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.11
- MetaLR 0.75
- MetaSVM -0.11
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.11
- ClinVar: Uncertain significance (Lynch syndrome; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)