A80D (p.Ala80Asp) variant of HNRNPU (Q00839)
A80D (p.Ala80Asp) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A80D (p.Ala80Asp) variant details
- p.Ala80Asp
- rs1225658657
- ClinGen CA345497574
- ClinVar RCV003757756
- gnomAD rs1225658657
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)