L3S (p.Leu3Ser) variant of BRCA1 (P38398)
L3S (p.Leu3Ser) in BRCA1 (P38398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary breast ovarian cancer syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L3S (p.Leu3Ser) variant details
- p.Leu3Ser
- rs397509332
- ClinGen CA059922
- ClinVar RCV001078098
- ClinVar RCV001873443
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.51
- MetaSVM -0.03
- CADD 36.00
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Enrich2 nucleotide variant scores for BRCA1 Y2H: score -2.17
- 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)