E140D (p.Glu140Asp) variant of HNRNPU (Q00839)
E140D (p.Glu140Asp) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Developmental and epileptic encephalopathy, 54; Inborn genetic dis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E140D (p.Glu140Asp) variant details
- p.Glu140Asp
- rs1325726632
- ClinGen CA345497157
- ClinVar RCV002293490
- ClinVar RCV002332723
- Uncertain significance
- not provided; Developmental and epileptic encephalopathy, 54; Inborn genetic dis
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 15.50
- PolyPhen-2 0.10
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Developmental and epileptic encephalopathy, 54; In)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)