G153D (p.Gly153Asp) variant of HNRNPU (Q00839)
G153D (p.Gly153Asp) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
G153D (p.Gly153Asp) variant details
- p.Gly153Asp
- rs369208639
- ClinGen CA1486794
- ClinVar RCV002539092
- ClinVar RCV003169170
- Likely benign
- Developmental and epileptic encephalopathy, 54; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54; Inborn genetic d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- 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)