K14R (p.Lys14Arg) variant of PALB2 (Partner and localizer of BRCA2)
K14R (p.Lys14Arg) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K14R (p.Lys14Arg) variant details
- p.Lys14Arg
- rs1555462506
- ClinGen CA395141036
- ClinVar RCV000550310
- Ensembl rs1555462506
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.14
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- 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)