R89P (p.Arg89Pro) variant of DCX (O43602)
R89P (p.Arg89Pro) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SBHX. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
R89P (p.Arg89Pro) variant details
- p.Arg89Pro
- rs61729440
- ClinGen CA171902
- ClinVar RCV000145826
- Ensembl rs61729440
- Pathogenic
- in SBHX
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.02
- SIFT 0.00
- EVE 0.86
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available