A112D (p.Ala112Asp) variant of HNRNPU (Q00839)
A112D (p.Ala112Asp) 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 0.27 / 1. The record also includes population frequency data and structural context.
A112D (p.Ala112Asp) variant details
- p.Ala112Asp
- Ensembl rs1680930008
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.45
- 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 5.2e-05)
- Structural context available