D5G (p.Asp5Gly) variant of FUS (RNA-binding protein FUS)
D5G (p.Asp5Gly) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- cosmic curated COSV10583
- ExAC rs778010613
- gnomAD rs778010613
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.45
- CADD 26.50
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available