D146N (p.Asp146Asn) variant of CRMP1 (Q14194)
D146N (p.Asp146Asn) 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 0.61 / 1. The record also includes population frequency data and structural context.
D146N (p.Asp146Asn) variant details
- p.Asp146Asn
- rs777531665
- ClinGen CA2837334
- NCI-TCGA Cosmic COSV6147
- cosmic curated COSV61478
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- ESM-1b 0.63
- AlphaMissense 0.10
- MetaLR 0.70
- MetaSVM 0.60
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available