E125A (p.Glu125Ala) variant of HNRNPU (Q00839)
E125A (p.Glu125Ala) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 54; Inborn genetic diseases; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E125A (p.Glu125Ala) variant details
- p.Glu125Ala
- rs199765762
- ClinGen CA1486814
- ClinVar RCV000954016
- ClinVar RCV002363473
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 54; Inborn genetic diseases; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: HNRNPU-Related Neurodevelopmental Disorder. (PMID 35274911)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)