D147E (p.Asp147Glu) variant of HNRNPU (Q00839)
D147E (p.Asp147Glu) 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. 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.
D147E (p.Asp147Glu) variant details
- p.Asp147Glu
- rs539279281
- ClinGen CA1486799
- cosmic curated COSV99310
- ClinVar RCV002538001
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)