P8A (p.Pro8Ala) variant of PALB2 (Partner and localizer of BRCA2)
P8A (p.Pro8Ala) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P8A (p.Pro8Ala) variant details
- p.Pro8Ala
- rs2506572755
- ClinGen CA2695197622
- ClinVar RCV003452366
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.04
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.04
- CADD 20.70
- PolyPhen-2 0.57
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)