T88R (p.Thr88Arg) variant of DCX (O43602)
T88R (p.Thr88Arg) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
T88R (p.Thr88Arg) variant details
- p.Thr88Arg
- rs2147276286
- ClinGen CA414246763
- ClinVar RCV001922327
- Ensembl rs2147276286
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available