S32N (p.Ser32Asn) variant of DCX (O43602)
S32N (p.Ser32Asn) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ectopic tissue. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- rs587783593
- ClinGen CA172089
- ClinVar RCV000145896
- Ensembl rs587783593
- Pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 1.00
- MetaLR 0.19
- MetaSVM -0.77
- SIFT 0.00
- ClinVar: Pathogenic (Ectopic tissue)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available