V23F (p.Val23Phe) variant of PMS2 (P54278)
V23F (p.Val23Phe) 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 0.84 / 1. The record also includes published literature and structural context.
V23F (p.Val23Phe) variant details
- p.Val23Phe
- rs374830220
- ClinGen CA366745125
- ClinVar RCV002369488
- ClinVar RCV004808288
- Uncertain significance
- Lynch syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- AlphaMissense 0.72
- MetaLR 0.83
- MetaSVM 0.80
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.82
- ClinVar: Uncertain significance (Lynch syndrome; Hereditary cancer-predisposing syndrome)
- 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)