K6Q (p.Lys6Gln) variant of BRCA2 (P51587)
K6Q (p.Lys6Gln) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
K6Q (p.Lys6Gln) variant details
- p.Lys6Gln
- rs794727232
- ClinGen CA012924
- ClinVar RCV000175514
- ClinVar RCV003644929
- Uncertain significance
- Missense
- AlphaMissense 0.14
- MetaLR 0.00
- MetaSVM -0.83
- SIFT 0.12
- MutPred 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)