R26S (p.Arg26Ser) variant of PALB2 (Partner and localizer of BRCA2)
R26S (p.Arg26Ser) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
R26S (p.Arg26Ser) variant details
- p.Arg26Ser
- rs45572434
- ClinGen CA395139769
- ClinVar RCV002416647
- TOPMed rs45572434
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.83
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.81
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)