F242I (p.Phe242Ile) variant of DCX (O43602)
F242I (p.Phe242Ile) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
F242I (p.Phe242Ile) variant details
- p.Phe242Ile
- rs587783582
- ClinGen CA172057
- ClinVar RCV000145885
- Ensembl rs587783582
- Likely pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.99
- MetaLR 0.16
- MetaSVM -0.87
- SIFT 0.00
- EVE 0.65
- ClinVar: Likely pathogenic (Ectopic tissue)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available