P8S (p.Pro8Ser) variant of PALB2 (Partner and localizer of BRCA2)
P8S (p.Pro8Ser) 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 Hereditary cancer-predisposing syndrome; 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.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- rs876660586
- ClinGen CA395141151
- ClinVar RCV000575831
- ClinVar RCV001858135
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.57
- SIFT 0.06
- MutPred 0.11
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial cancer of brea)
- EBI: Likely benign
- UniProt: Likely benign
- 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)