A47S (p.Ala47Ser) variant of HNRNPU (Q00839)
A47S (p.Ala47Ser) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A47S (p.Ala47Ser) variant details
- p.Ala47Ser
- ExAC rs763955551
- TOPMed rs763955551
- gnomAD rs763955551
- Conflicting interpretations
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.30
- PolyPhen-2 0.68
- SIFT 0.69
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available