N13D (p.Asn13Asp) variant of BRCA1 (P38398)
N13D (p.Asn13Asp) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes experimental measurements, published literature, and structural context.
N13D (p.Asn13Asp) variant details
- p.Asn13Asp
- rs1597923586
- ClinGen CA10602087
- ClinVar RCV000824522
- ClinVar RCV001077672
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.15
- MetaLR 0.25
- MetaSVM -0.49
- PolyPhen-2 0.30
- SIFT 0.10
- EVE 0.73
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.226
- 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)