A5D (p.Ala5Asp) variant of BRCA1 (P38398)
A5D (p.Ala5Asp) 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 0.39 / 1. The record also includes experimental measurements, published literature, and structural context.
A5D (p.Ala5Asp) variant details
- p.Ala5Asp
- rs1335137805
- ClinGen CA10602132
- ClinVar RCV001076428
- gnomAD rs1335137805
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- ESM-1b 0.46
- AlphaMissense 0.21
- MetaLR 0.67
- MetaSVM -0.10
- CADD 2.58
- EVE 0.17
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.72
- 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)