G34E (p.Gly34Glu) variant of FUS (RNA-binding protein FUS)
G34E (p.Gly34Glu) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G34E (p.Gly34Glu) variant details
- p.Gly34Glu
- cosmic curated COSV10728
- Ensembl rs1567469634
- Uncertain significance
- Amyotrophic lateral sclerosis type 6; Tremor, hereditary essential, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.48
- CADD 24.90
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (Amyotrophic lateral sclerosis type 6; Tremor, hereditary essenti)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available