D48E (p.Asp48Glu) variant of POLR1D (P0DPB6)
D48E (p.Asp48Glu) in POLR1D (P0DPB6) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
D48E (p.Asp48Glu) variant details
- p.Asp48Glu
- rs750965300
- ClinGen CA387635106
- ClinVar RCV003291128
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.90
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)