E46D (p.Glu46Asp) variant of HNRNPU (Q00839)
E46D (p.Glu46Asp) 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, experimental measurements, and structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- cosmic curated COSV51689
- Ensembl rs1358372912
- Benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.40
- PolyPhen-2 0.12
- SIFT 0.26
- ClinVar: Benign (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.329