A116V (p.Ala116Val) variant of HNRNPU (Q00839)
A116V (p.Ala116Val) 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 0.22 / 1. The record also includes published literature and structural context.
A116V (p.Ala116Val) variant details
- p.Ala116Val
- rs1680929668
- ClinGen CA345497324
- ClinVar RCV002568557
- Ensembl rs1680929668
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)