M215I (p.Met215Ile) variant of CRMP1 (Q14194)
M215I (p.Met215Ile) 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 0.62 / 1. The record also includes population frequency data and structural context.
M215I (p.Met215Ile) variant details
- p.Met215Ile
- rs146352571
- ClinGen CA2837217
- cosmic curated COSV61480
- ClinVar RCV004226016
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- ESM-1b 1.00
- AlphaMissense 0.42
- MetaLR 0.58
- MetaSVM -0.03
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available