C133T (p.Cys133Thr) variant of CRMP1 (Q14194)
C133T (p.Cys133Thr) in CRMP1 (Q14194) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
C133T (p.Cys133Thr) variant details
- p.Cys133Thr
- rs2475531598
- ClinGen CA356155029
- NCI-TCGA Cosmic COSV6148
- ClinVar RCV004357153
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- ESM-1b 1.00
- AlphaMissense 0.77
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available