K7M (p.Lys7Met) variant of PALB2 (Partner and localizer of BRCA2)
K7M (p.Lys7Met) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K7M (p.Lys7Met) variant details
- p.Lys7Met
- rs947155109
- ClinGen CA395141162
- ClinVar RCV001317714
- TOPMed rs947155109
- Uncertain significance
- Familial cancer of breast
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.09
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Familial cancer of breast)
- 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)