L28M (p.Leu28Met) variant of BRCA1 (P38398)
L28M (p.Leu28Met) 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 0.82 / 1. The record also includes experimental measurements, published literature, and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- rs1219301058
- ClinGen CA10601989
- ClinVar RCV001076157
- ClinVar RCV002554778
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- ESM-1b 1.00
- AlphaMissense 0.61
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.63
- 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)