P5A (p.Pro5Ala) variant of PALB2 (Partner and localizer of BRCA2)
P5A (p.Pro5Ala) 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 0.25 / 1. The record also includes published literature and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- rs377085677
- ClinGen CA395141206
- ClinVar RCV003500175
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -0.94
- PolyPhen-2 0.02
- SIFT 0.58
- 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)