E125D (p.Glu125Asp) variant of HNRNPU (Q00839)
E125D (p.Glu125Asp) in HNRNPU (Q00839) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; not provided. 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.
E125D (p.Glu125Asp) variant details
- p.Glu125Asp
- rs752671029
- ClinGen CA1486813
- ClinVar RCV001559672
- ClinVar RCV002568393
- Likely benign
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Likely benign (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)