K18Q (p.Lys18Gln) variant of PALB2 (Partner and localizer of BRCA2)
K18Q (p.Lys18Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
K18Q (p.Lys18Gln) variant details
- p.Lys18Gln
- rs2142461206
- ClinGen CA395140005
- ClinVar RCV001370150
- Ensembl rs2142461206
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- AlphaMissense 0.53
- MetaLR 0.16
- MetaSVM -0.61
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)