S66F (p.Ser66Phe) variant of HNRNPU (Q00839)
S66F (p.Ser66Phe) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S66F (p.Ser66Phe) variant details
- p.Ser66Phe
- rs1163062953
- ClinGen CA345497673
- ClinVar RCV002608629
- gnomAD rs1163062953
- Uncertain significance
- Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.07
- ESM-1b 0.35
- AlphaMissense 0.14
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.03
- 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 1.5e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)