C27W (p.Cys27Trp) variant of PMS2 (P54278)
C27W (p.Cys27Trp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
C27W (p.Cys27Trp) variant details
- p.Cys27Trp
- rs2128845860
- ClinGen CA366745094
- ClinVar RCV004518753
- Ensembl rs2128845860
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.98
- MetaLR 0.74
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.92
- ClinVar: Uncertain significance (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)