S3C (p.Ser3Cys) variant of HNRNPU (Q00839)
S3C (p.Ser3Cys) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- rs771628842
- ClinGen CA1486879
- ClinVar RCV003592508
- ExAC rs771628842
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.09
- ESM-1b 0.72
- AlphaMissense 0.10
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.19
- 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)