L44M (p.Leu44Met) variant of BRIP1 (Fanconi anemia group J protein)
L44M (p.Leu44Met) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
L44M (p.Leu44Met) variant details
- p.Leu44Met
- ExAC rs758270108
- gnomAD rs758270108
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available