V139M (p.Val139Met) variant of CRMP1 (Q14194)
V139M (p.Val139Met) 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 0.45 / 1. The record also includes population frequency data and structural context.
V139M (p.Val139Met) variant details
- p.Val139Met
- rs548835481
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10027
- 1000Genomes rs548835481
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.75
- MetaSVM 0.43
- PolyPhen-2 0.65
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available