T218M (p.Thr218Met) variant of CRMP1 (Q14194)
T218M (p.Thr218Met) in CRMP1 (Q14194) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
T218M (p.Thr218Met) variant details
- p.Thr218Met
- rs142255876
- cosmic curated COSV61479
- ESP rs142255876
- ExAC rs142255876
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.83
- MetaSVM 0.88
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available