D61G (p.Asp61Gly) variant of HNRNPU (Q00839)
D61G (p.Asp61Gly) 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.
D61G (p.Asp61Gly) variant details
- p.Asp61Gly
- rs1317607352
- ClinGen CA345497751
- ClinVar RCV002564037
- gnomAD rs1317607352
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.40
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)