F249C (p.Phe249Cys) variant of DCX (O43602)
F249C (p.Phe249Cys) 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 0.57 / 1. The record also includes structural context.
F249C (p.Phe249Cys) variant details
- p.Phe249Cys
- rs587783584
- ClinGen CA172063
- ClinVar RCV000145887
- Ensembl rs587783584
- Likely pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- AlphaMissense 1.00
- MetaLR 0.43
- MetaSVM -0.10
- SIFT 0.07
- EVE 0.93
- ClinVar: Likely pathogenic (Ectopic tissue)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available