D27Y (p.Asp27Tyr) variant of CRMP1 (Q14194)
D27Y (p.Asp27Tyr) 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.
D27Y (p.Asp27Tyr) variant details
- p.Asp27Tyr
- rs545458583
- ClinGen CA2837425
- cosmic curated COSV10027
- ClinVar RCV004100795
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- ESM-1b 1.00
- AlphaMissense 0.68
- MetaLR 0.55
- MetaSVM 0.16
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available