I184N (p.Ile184Asn) variant of DCX (O43602)
I184N (p.Ile184Asn) 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 0.49 / 1. The record also includes structural context.
I184N (p.Ile184Asn) variant details
- p.Ile184Asn
- rs587783561
- ClinGen CA171989
- ClinVar RCV000145857
- Ensembl rs587783561
- Likely pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 1.00
- MetaLR 0.30
- MetaSVM -0.55
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Ectopic tissue)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available