N13H (p.Asn13His) variant of BRCA1 (P38398)
N13H (p.Asn13His) 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 0.66 / 1. The record also includes experimental measurements, published literature, and structural context.
N13H (p.Asn13His) variant details
- p.Asn13His
- rs1597923586
- ClinGen CA10602088
- ClinVar RCV001077671
- Ensembl rs1597923586
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- ESM-1b 1.00
- AlphaMissense 0.14
- MetaLR 0.64
- MetaSVM 0.29
- CADD 23.00
- EVE 0.82
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -3.05
- 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)