S10T (p.Ser10Thr) variant of PALB2 (Partner and localizer of BRCA2)
S10T (p.Ser10Thr) 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 0.34 / 1. The record also includes published literature and structural context.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- rs876659643
- ClinGen CA395141123
- ClinVar RCV001017898
- Ensembl rs876659643
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.54
- MetaLR 0.13
- MetaSVM -0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)