L3F (p.Leu3Phe) variant of BRCA1 (P38398)
L3F (p.Leu3Phe) 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 0.27 / 1. The record also includes experimental measurements, published literature, and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- rs780157871
- ClinGen CA10602140
- ClinVar RCV000509994
- ClinVar RCV001037875
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 Y2H: score -2.17
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)