L6L (p.Leu6Leu) variant of BRCA1 (P38398)
L6L (p.Leu6Leu) in BRCA1 (P38398) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD 17-43050066-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 5.80
- Population evidence available
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score 0.147
- Literature evidence available