K7N (p.Lys7Asn) variant of PALB2 (Partner and localizer of BRCA2)
K7N (p.Lys7Asn) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- rs1424944402
- ClinGen CA395141157
- ClinVar RCV001030102
- ClinVar RCV005692273
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.55
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.27
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)