A243V (p.Ala243Val) variant of CRMP1 (Q14194)
A243V (p.Ala243Val) in CRMP1 (Q14194) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A243V (p.Ala243Val) variant details
- p.Ala243Val
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10027
- ExAC rs750102720
- gnomAD rs750102720
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- ESM-1b 1.00
- AlphaMissense 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available