D24E (p.Asp24Glu) variant of ERCC3 (P19447)
D24E (p.Asp24Glu) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
D24E (p.Asp24Glu) variant details
- p.Asp24Glu
- rs531561069
- ClinGen CA1858630
- ClinVar RCV001973303
- ClinVar RCV002569307
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0837
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- 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)