D262N (p.Asp262Asn) variant of CRMP1 (Q14194)
D262N (p.Asp262Asn) 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 0.63 / 1. The record also includes population frequency data and structural context.
D262N (p.Asp262Asn) variant details
- p.Asp262Asn
- rs372823825
- ClinGen CA2837161
- cosmic curated COSV61480
- ClinVar RCV004304371
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM 0.39
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available