L6F (p.Leu6Phe) variant of BRCA1 (P38398)
L6F (p.Leu6Phe) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- rs1315262605
- ClinGen CA10602127
- ClinVar RCV000815437
- ClinVar RCV001077646
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.45
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.57
- CADD 17.70
- PolyPhen-2 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.147
- 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)