L9P (p.Leu9Pro) variant of PALB2 (Partner and localizer of BRCA2)
L9P (p.Leu9Pro) 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 Familial cancer of breast. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- rs515726092
- ClinGen CA395141136
- ClinVar RCV001524097
- Ensembl rs515726092
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.48
- MetaLR 0.13
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.12
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)