S29I (p.Ser29Ile) variant of PALB2 (Partner and localizer of BRCA2)
S29I (p.Ser29Ile) 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.
S29I (p.Ser29Ile) variant details
- p.Ser29Ile
- rs1967110973
- ClinGen CA395139714
- ClinVar RCV002373420
- Ensembl rs1967110973
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.48
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.70
- 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)