L106P (p.Leu106Pro) variant of HNRNPU (Q00839)
L106P (p.Leu106Pro) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L106P (p.Leu106Pro) variant details
- p.Leu106Pro
- rs369111527
- ClinGen CA1486822
- ClinVar RCV002543161
- ClinVar RCV004770026
- Conflicting interpretations
- not specified; Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not specified; Developmental and epileptic encephalopathy, 54)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)