E125K (p.Glu125Lys) variant of CRMP1 (Q14194)
E125K (p.Glu125Lys) 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 0.63 / 1. The record also includes population frequency data and structural context.
E125K (p.Glu125Lys) variant details
- p.Glu125Lys
- rs376766526
- NCI-TCGA Cosmic COSV6147
- cosmic curated COSV61478
- ESP rs376766526
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- ESM-1b 0.84
- AlphaMissense 0.11
- MetaLR 0.73
- MetaSVM 0.39
- PolyPhen-2 0.04
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available