V11L (p.Val11Leu) variant of BRCA1 (P38398)
V11L (p.Val11Leu) 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 0.62 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V11L (p.Val11Leu) variant details
- p.Val11Leu
- rs1555601019
- ClinGen CA10602097
- ClinVar RCV001072348
- Ensembl rs1555601019
- Uncertain significance
- Hereditary breast ovarian cancer syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.82
- MetaLR 0.57
- MetaSVM 0.19
- CADD 23.30
- ClinVar: Uncertain significance (Hereditary breast ovarian cancer syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -1.45
- 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)