G382R (p.Gly382Arg) variant of PMS2 (P54278)
G382R (p.Gly382Arg) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G382R (p.Gly382Arg) variant details
- p.Gly382Arg
- rs779512948
- ClinGen CA042158
- ClinVar RCV002047937
- ClinVar RCV002458980
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.57
- AlphaMissense 0.16
- MetaLR 0.73
- MetaSVM 0.38
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)