E2Q (p.Glu2Gln) variant of PMS2 (P54278)
E2Q (p.Glu2Gln) 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; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E2Q (p.Glu2Gln) variant details
- p.Glu2Gln
- rs1554309080
- ClinGen CA366745248
- ClinVar RCV000543235
- ClinVar RCV002341258
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.41
- CADD 24.20
- PolyPhen-2 0.80
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- 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)