K16R (p.Lys16Arg) variant of BRCA2 (P51587)
K16R (p.Lys16Arg) 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, population frequency data, and published literature.
K16R (p.Lys16Arg) variant details
- p.Lys16Arg
- rs876660440
- ClinGen CA10579443
- cosmic curated COSV61525
- ClinVar RCV000221506
- Uncertain significance
- Missense
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)