V13L (p.Val13Leu) variant of BRIP1 (Fanconi anemia group J protein)
V13L (p.Val13Leu) 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 Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs1488264110
- ClinGen CA400486022
- ClinVar RCV003339127
- ClinVar RCV003777484
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.53
- MetaLR 0.32
- MetaSVM -0.51
- PolyPhen-2 0.97
- SIFT 0.08
- EVE 0.72
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- 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)