V20D (p.Val20Asp) variant of SPAST (Spastin)
V20D (p.Val20Asp) in SPAST (Spastin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
V20D (p.Val20Asp) variant details
- p.Val20Asp
- rs2465679807
- ClinGen CA2580066368
- ClinVar RCV002511959
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available