Y28N (p.Tyr28Asn) variant of PALB2 (Partner and localizer of BRCA2)
Y28N (p.Tyr28Asn) 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 PALB2-related cancer predisposition. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
Y28N (p.Tyr28Asn) variant details
- p.Tyr28Asn
- rs1060502762
- ClinGen CA16615316
- ClinVar RCV000458643
- ClinVar RCV000564398
- Uncertain significance
- PALB2-related cancer predisposition
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- AlphaMissense 0.97
- MetaLR 0.23
- MetaSVM -0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Uncertain significance (PALB2-related cancer predisposition)
- 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)