L3S (p.Leu3Ser) variant of BRCA1 (P38398)
L3S (p.Leu3Ser) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 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
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.55
- AlphaMissense 0.15
- MetaLR 0.51
- MetaSVM -0.03
- CADD 23.60
- PolyPhen-2 0.95
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -1.11
- 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)