G271D (p.Gly271Asp) variant of PMS2 (P54278)
G271D (p.Gly271Asp) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G271D (p.Gly271Asp) variant details
- p.Gly271Asp
- rs1583364867
- ClinGen CA366743569
- ClinVar RCV000793507
- ClinVar RCV002422685
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.87
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.01
- CADD 27.00
- PolyPhen-2 0.99
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)