S10N (p.Ser10Asn) variant of PALB2 (Partner and localizer of BRCA2)
S10N (p.Ser10Asn) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- rs876659643
- ClinGen CA395141124
- ClinVar RCV003182757
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.17
- AlphaMissense 0.54
- MetaLR 0.13
- MetaSVM -0.84
- CADD 28.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- 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)