P4A (p.Pro4Ala) variant of PALB2 (Partner and localizer of BRCA2)
P4A (p.Pro4Ala) 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 0.31 / 1. The record also includes published literature and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- rs587782483
- ClinGen CA395141220
- ClinVar RCV003608175
- TOPMed rs587782483
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.30
- SIFT 0.24
- MutPred 0.13
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)