R8K (p.Arg8Lys) variant of BRCA2 (P51587)
R8K (p.Arg8Lys) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- rs2072261141
- ClinGen CA387752963
- ClinVar RCV001218282
- ClinVar RCV005306324
- Likely benign
- Missense
- REVEL 0.10
- AlphaMissense 0.26
- MetaLR 0.02
- MetaSVM -1.16
- CADD 24.10
- PolyPhen-2 0.99
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)