A27V (p.Ala27Val) variant of BRIP1 (Fanconi anemia group J protein)
A27V (p.Ala27Val) 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 0.50 / 1. The record also includes published literature and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs2145863755
- ClinGen CA400485924
- ClinVar RCV003585066
- Ensembl rs2145863755
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- AlphaMissense 0.50
- MetaLR 0.38
- MetaSVM -0.25
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.63
- 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)