A95E (p.Ala95Glu) variant of CRMP1 (Q14194)
A95E (p.Ala95Glu) 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 0.38 / 1. The record also includes population frequency data and structural context.
A95E (p.Ala95Glu) variant details
- p.Ala95Glu
- cosmic curated COSV61478
- ExAC rs779175259
- TOPMed rs779175259
- gnomAD rs779175259
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.43
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available