D27N (p.Asp27Asn) variant of CRMP1 (Q14194)
D27N (p.Asp27Asn) 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 0.71 / 1. The record also includes population frequency data and structural context.
D27N (p.Asp27Asn) variant details
- p.Asp27Asn
- cosmic curated COSV10027
- ExAC rs545458583
- TOPMed rs545458583
- gnomAD rs545458583
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- ESM-1b 1.00
- AlphaMissense 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available