A27S (p.Ala27Ser) variant of BRIP1 (Fanconi anemia group J protein)
A27S (p.Ala27Ser) 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 0.39 / 1. The record also includes published literature and structural context.
A27S (p.Ala27Ser) variant details
- p.Ala27Ser
- rs1555618704
- ClinGen CA400485926
- ClinVar RCV000566279
- Ensembl rs1555618704
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.17
- MetaLR 0.26
- MetaSVM -0.70
- PolyPhen-2 0.98
- SIFT 0.15
- EVE 0.22
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)