P8T (p.Pro8Thr) variant of PALB2 (Partner and localizer of BRCA2)
P8T (p.Pro8Thr) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast-ovarian cancer, familial, susceptibility to, 5; Hereditary cancer-predisp. 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.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- rs876660586
- ClinGen CA395141153
- ClinVar RCV000773884
- ClinVar RCV001209051
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 5; Hereditary cancer-predisp
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.04
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.04
- CADD 21.00
- PolyPhen-2 0.57
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 5; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-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)