M1T (p.Met1Thr) variant of DCX (O43602)
M1T (p.Met1Thr) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs587783539
- ClinGen CA171917
- ClinVar RCV000145831
- Pathogenic
- Missense
- MetaLR 0.10
- MetaSVM -0.99
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available