M4L (p.Met4Leu) variant of BRIP1 (Fanconi anemia group J protein)
M4L (p.Met4Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
M4L (p.Met4Leu) variant details
- p.Met4Leu
- rs45512093
- ClinGen CA400486084
- ClinVar RCV000774961
- TOPMed rs45512093
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.13
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)