C47W (p.Cys47Trp) variant of BIN1 (O00499)
C47W (p.Cys47Trp) in BIN1 (O00499) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes structural context.
C47W (p.Cys47Trp) variant details
- p.Cys47Trp
- ExAC rs747090652
- gnomAD rs747090652
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available