P5L (p.Pro5Leu) variant of PALB2 (Partner and localizer of BRCA2)
P5L (p.Pro5Leu) 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; 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.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs1967234897
- ClinGen CA395141197
- ClinVar RCV001176370
- ClinVar RCV002559691
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.15
- MetaLR 0.07
- MetaSVM -1.08
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)