A112T (p.Ala112Thr) variant of HNRNPU (Q00839)
A112T (p.Ala112Thr) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A112T (p.Ala112Thr) variant details
- p.Ala112Thr
- rs1166595391
- ClinGen CA345497351
- ClinVar RCV003757336
- gnomAD rs1166595391
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)