A78V (p.Ala78Val) variant of HNRNPU (Q00839)
A78V (p.Ala78Val) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 54. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- rs1489983826
- ClinGen CA345497583
- ClinVar RCV003840841
- ClinVar RCV005353309
- Conflicting interpretations
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 54
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6e-05)
- 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)