G151C (p.Gly151Cys) variant of HNRNPU (Q00839)
G151C (p.Gly151Cys) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G151C (p.Gly151Cys) variant details
- p.Gly151Cys
- rs570495195
- ClinGen CA1486797
- ClinVar RCV003022442
- 1000Genomes rs570495195
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.06
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 54)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)