D18H (p.Asp18His) variant of PRKN (O60260)
D18H (p.Asp18His) in PRKN (O60260) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes experimental measurements and structural context.
D18H (p.Asp18His) variant details
- p.Asp18His
- cosmic curated COSV58202
- 1000Genomes rs146288080
- ESP rs146288080
- ExAC rs146288080
- Likely benign
- Missense
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.02