S10G (p.Ser10Gly) variant of PALB2 (Partner and localizer of BRCA2)
S10G (p.Ser10Gly) 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 0.35 / 1. The record also includes published literature and structural context.
S10G (p.Ser10Gly) variant details
- p.Ser10Gly
- rs2142481164
- ClinGen CA395141127
- ClinVar RCV003311296
- Ensembl rs2142481164
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.23
- MetaLR 0.12
- MetaSVM -0.81
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.09
- 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)