I304N (p.Ile304Asn) variant of FMR1 (Q06787)
I304N (p.Ile304Asn) in FMR1 (Q06787) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fragile X syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
I304N (p.Ile304Asn) variant details
- p.Ile304Asn
- rs121434622
- ClinGen CA254953
- ClinVar RCV000010648
- UniProt VAR 005234
- Pathogenic
- Fragile X syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic (Fragile X syndrome)
- EBI: Pathogenic (in FXS)
- UniProt: Pathogenic (in FXS)
- Structural context available
- Cited in: Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations. (PMID 10196376)
- Cited in: Evidence that fragile X mental retardation protein is a negative regulator of translation. (PMID 11157796)