K21R (p.Lys21Arg) variant of BRCA2 (P51587)
K21R (p.Lys21Arg) 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.
K21R (p.Lys21Arg) variant details
- p.Lys21Arg
- rs397507367
- ClinGen CA023837
- cosmic curated COSV10591
- ClinVar RCV000031614
- Likely benign
- Missense
- REVEL 0.05
- CADD 20.00
- PolyPhen-2 0.33
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)