D147Y (p.Asp147Tyr) variant of HNRNPU (Q00839)
D147Y (p.Asp147Tyr) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D147Y (p.Asp147Tyr) variant details
- p.Asp147Tyr
- rs781659437
- ClinGen CA345497103
- ClinVar RCV002318810
- ExAC rs781659437
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.07
- ESM-1b 0.30
- AlphaMissense 0.26
- CADD 22.70
- PolyPhen-2 0.07
- SIFT 0.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)