D147N (p.Asp147Asn) variant of HNRNPU (Q00839)
D147N (p.Asp147Asn) 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. 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.
D147N (p.Asp147Asn) variant details
- p.Asp147Asn
- rs781659437
- ClinGen CA1486800
- ClinVar RCV002532340
- ExAC rs781659437
- Likely benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)