K25Q (p.Lys25Gln) variant of PALB2 (Partner and localizer of BRCA2)
K25Q (p.Lys25Gln) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
K25Q (p.Lys25Gln) variant details
- p.Lys25Gln
- rs1248579792
- ClinGen CA395139813
- ClinVar RCV001030116
- ClinVar RCV003160189
- Uncertain significance
- Familial cancer of breast; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- AlphaMissense 0.56
- MetaLR 0.15
- MetaSVM -0.87
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.66
- ClinVar: Uncertain significance (Familial cancer of breast; Hereditary cancer-predisposing syndro)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)