P183L (p.Pro183Leu) variant of BIN1 (O00499)
P183L (p.Pro183Leu) in BIN1 (O00499) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
P183L (p.Pro183Leu) variant details
- p.Pro183Leu
- cosmic curated COSV10726
- Ensembl rs1685394910
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available