I279V (p.Ile279Val) variant of CRMP1 (Q14194)
I279V (p.Ile279Val) 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 0.27 / 1. The record also includes structural context.
I279V (p.Ile279Val) variant details
- p.Ile279Val
- cosmic curated COSV61481
- TOPMed rs983344104
- gnomAD rs983344104
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available