E149G (p.Glu149Gly) variant of HNRNPU (Q00839)
E149G (p.Glu149Gly) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 54; 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, published literature, and structural context.
E149G (p.Glu149Gly) variant details
- p.Glu149Gly
- rs375569535
- ClinGen CA40505134
- ClinVar RCV002331511
- ClinVar RCV002563453
- Uncertain significance
- Developmental and epileptic encephalopathy, 54; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 24.90
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)