D130G (p.Asp130Gly) variant of HNRNPU (Q00839)
D130G (p.Asp130Gly) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D130G (p.Asp130Gly) variant details
- p.Asp130Gly
- rs768631349
- ClinGen CA1486808
- ClinVar RCV003757105
- ExAC rs768631349
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.03
- 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 4.5e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)