S3L (p.Ser3Leu) variant of BRIP1 (Fanconi anemia group J protein)
S3L (p.Ser3Leu) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs1603368491
- ClinGen CA400486088
- ClinVar RCV001018622
- Ensembl rs1603368491
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.37
- AlphaMissense 0.13
- MetaLR 0.40
- MetaSVM -0.35
- CADD 28.20
- PolyPhen-2 0.53
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-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)