S73F (p.Ser73Phe) variant of DCX (O43602)
S73F (p.Ser73Phe) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
S73F (p.Ser73Phe) variant details
- p.Ser73Phe
- rs587783533
- ClinGen CA171887
- ClinVar RCV000145821
- Ensembl rs587783533
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.05
- SIFT 0.00
- EVE 0.89
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available