E2G (p.Glu2Gly) variant of PMS2 (P54278)
E2G (p.Glu2Gly) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Breast and/or ovarian cancer; Here. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- rs876658233
- ClinGen CA10578737
- ClinVar RCV000219403
- ClinVar RCV000557539
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Breast and/or ovarian cancer; Here
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.47
- AlphaMissense 0.11
- MetaLR 0.75
- MetaSVM -0.11
- CADD 33.00
- PolyPhen-2 0.95
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Breast and/or ovar)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)