N132D (p.Asn132Asp) variant of HNRNPU (Q00839)
N132D (p.Asn132Asp) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N132D (p.Asn132Asp) variant details
- p.Asn132Asp
- rs1414347355
- ClinGen CA345497220
- ClinVar RCV002543184
- TOPMed rs1414347355
- Likely benign
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)