I15F (p.Ile15Phe) variant of BRIP1 (Fanconi anemia group J protein)
I15F (p.Ile15Phe) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I15F (p.Ile15Phe) variant details
- p.Ile15Phe
- Ensembl rs1567878177
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.31
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.93
- CADD 28.10
- PolyPhen-2 0.91
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available