N30K (p.Asn30Lys) variant of BRCA2 (P51587)
N30K (p.Asn30Lys) 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.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- rs760655471
- ExAC rs760655471
- TOPMed rs760655471
- gnomAD rs760655471
- Likely benign
- Missense
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -1.19
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)