A79T (p.Ala79Thr) variant of HNRNPU (Q00839)
A79T (p.Ala79Thr) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- rs1245925607
- ClinGen CA345497582
- ClinVar RCV002533495
- TOPMed rs1245925607
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.13
- ESM-1b 0.13
- AlphaMissense 0.08
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.60
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)