L137P (p.Leu137Pro) variant of DLG4 (Disks large homolog 4)
L137P (p.Leu137Pro) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from EBI and UniProt describe it as conflicting interpretations. The record also includes structural context.
L137P (p.Leu137Pro) variant details
- p.Leu137Pro
- rs796051908
- Conflicting interpretations
- Missense
- EBI: ['likely-pathogenic', 'uncertain-significance']
- UniProt: Likely-pathogenic
- Structural context available