F57C (p.Phe57Cys) variant of DCX (O43602)
F57C (p.Phe57Cys) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
F57C (p.Phe57Cys) variant details
- p.Phe57Cys
- rs587783526
- ClinGen CA171863
- ClinVar RCV000145813
- Ensembl rs587783526
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 1.00
- MetaLR 0.57
- MetaSVM 0.37
- SIFT 0.00
- EVE 0.96
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available