K16R (p.Lys16Arg) variant of PALB2 (Partner and localizer of BRCA2)
K16R (p.Lys16Arg) 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 not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- rs1064795514
- ClinGen CA16620165
- ClinVar RCV000485171
- ClinVar RCV000584562
- Uncertain significance
- not provided; Familial cancer of breast; Hereditary cancer-predisposing syndrome
- 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: Uncertain significance (not provided; Familial cancer of breast; Hereditary cancer-predi)
- 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)