E121K (p.Glu121Lys) variant of CRMP1 (Q14194)
E121K (p.Glu121Lys) 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 0.69 / 1. The record also includes population frequency data and structural context.
E121K (p.Glu121Lys) variant details
- p.Glu121Lys
- rs773574222
- ClinGen CA2837346
- cosmic curated COSV10520
- ClinVar RCV004367427
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.67
- MetaSVM 0.35
- PolyPhen-2 0.40
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available