V11L (p.Val11Leu) variant of BRCA1 (P38398)
V11L (p.Val11Leu) 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 0.59 / 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
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.68
- AlphaMissense 0.21
- MetaLR 0.57
- MetaSVM 0.19
- CADD 24.80
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.781
- 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)