C297F (p.Cys297Phe) variant of IDH1 (O75874)
C297F (p.Cys297Phe) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Paroxysmal extreme pain disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
C297F (p.Cys297Phe) variant details
- p.Cys297Phe
- rs2124849065
- ClinGen CA350095404
- ClinVar RCV001647346
- Ensembl rs2124849065
- Likely pathogenic
- Paroxysmal extreme pain disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.89
- MetaLR 0.77
- MetaSVM 0.72
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.46
- ClinVar: Likely pathogenic (Paroxysmal extreme pain disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SCN9A Neuropathic Pain Syndromes. (PMID 20301342)