R149L (p.Arg149Leu) variant of CRMP1 (Q14194)
R149L (p.Arg149Leu) in CRMP1 (Q14194) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data and structural context.
R149L (p.Arg149Leu) variant details
- p.Arg149Leu
- cosmic curated COSV61481
- ExAC rs754327324
- TOPMed rs754327324
- gnomAD rs754327324
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- ESM-1b 1.00
- AlphaMissense 0.17
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available