E10V (p.Glu10Val) variant of PMS2 (P54278)
E10V (p.Glu10Val) 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 colorectal neoplasms; Lynch syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- rs878854050
- ClinGen CA366745194
- ClinVar RCV001045627
- ClinVar RCV001189337
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- AlphaMissense 0.08
- MetaLR 0.68
- MetaSVM 0.24
- PolyPhen-2 0.99
- SIFT 0.12
- MutPred 0.19
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; no)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)