E108G (p.Glu108Gly) variant of HNRNPU (Q00839)
E108G (p.Glu108Gly) in HNRNPU (Q00839) 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 0.24 / 1. The record also includes population frequency data and structural context.
E108G (p.Glu108Gly) variant details
- p.Glu108Gly
- gnomAD rs1680930228
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available