D83E (p.Asp83Glu) variant of HNRNPU (Q00839)
D83E (p.Asp83Glu) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
D83E (p.Asp83Glu) variant details
- p.Asp83Glu
- rs1363572292
- ClinGen CA345497554
- cosmic curated COSV51689
- ClinVar RCV003592057
- Benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.71
- ClinVar: Benign (Developmental and epileptic encephalopathy, 54)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)