Q40L (p.Gln40Leu) variant of BRIP1 (Fanconi anemia group J protein)
Q40L (p.Gln40Leu) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Q40L (p.Gln40Leu) variant details
- p.Gln40Leu
- Ensembl rs2078951315
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available