K16T (p.Lys16Thr) variant of PALB2 (Partner and localizer of BRCA2)
K16T (p.Lys16Thr) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
K16T (p.Lys16Thr) variant details
- p.Lys16Thr
- rs1064795514
- ClinGen CA395141005
- ClinVar RCV003156021
- ClinVar RCV004697206
- Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.14
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.70
- SIFT 0.02
- EVE 0.73
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)