L33V (p.Leu33Val) variant of BRIP1 (Fanconi anemia group J protein)
L33V (p.Leu33Val) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
L33V (p.Leu33Val) variant details
- p.Leu33Val
- rs772319724
- ClinGen CA400485878
- ClinVar RCV003815666
- ExAC rs772319724
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.47
- MetaLR 0.13
- MetaSVM -0.94
- PolyPhen-2 0.24
- SIFT 0.01
- EVE 0.17
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)