C27Y (p.Cys27Tyr) variant of PMS2 (P54278)
C27Y (p.Cys27Tyr) 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; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C27Y (p.Cys27Tyr) variant details
- p.Cys27Tyr
- rs2128845886
- ClinGen CA366745097
- ClinVar RCV001369699
- ClinVar RCV005403062
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.83
- AlphaMissense 0.95
- MetaLR 0.81
- MetaSVM 0.75
- CADD 25.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)