K7R (p.Lys7Arg) variant of PALB2 (Partner and localizer of BRCA2)
K7R (p.Lys7Arg) in PALB2 (Partner and localizer of BRCA2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial cancer of breast; PALB2-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K7R (p.Lys7Arg) variant details
- p.Lys7Arg
- rs947155109
- ClinGen CA16620166
- ClinVar RCV000483460
- ClinVar RCV000571040
- Conflicting interpretations
- Familial cancer of breast; PALB2-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.04
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Familial cancer of breast; PALB2-related disorder; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)