E221K (p.Glu221Lys) variant of CRMP1 (Q14194)
E221K (p.Glu221Lys) in CRMP1 (Q14194) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
E221K (p.Glu221Lys) variant details
- p.Glu221Lys
- rs1183227411
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10027
- TOPMed rs1183227411
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.81
- MetaSVM 0.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available