R149W (p.Arg149Trp) variant of CRMP1 (Q14194)
R149W (p.Arg149Trp) 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 0.61 / 1. The record also includes population frequency data and structural context.
R149W (p.Arg149Trp) variant details
- p.Arg149Trp
- cosmic curated COSV61481
- ESP rs373503083
- ExAC rs373503083
- TOPMed rs373503083
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- ESM-1b 1.00
- AlphaMissense 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available