R258P (p.Arg258Pro) variant of DCX (O43602)
R258P (p.Arg258Pro) 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 0.68 / 1. The record also includes structural context.
R258P (p.Arg258Pro) variant details
- p.Arg258Pro
- rs587783587
- ClinGen CA172072
- ClinVar RCV000145890
- Ensembl rs587783587
- Likely pathogenic
- Ectopic tissue
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 1.00
- MetaLR 0.79
- MetaSVM 0.71
- SIFT 0.02
- EVE 0.34
- ClinVar: Likely pathogenic (Ectopic tissue)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available