E98K (p.Glu98Lys) variant of ERCC2 (P18074)
E98K (p.Glu98Lys) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E98K (p.Glu98Lys) variant details
- p.Glu98Lys
- rs753975439
- ClinGen CA9513836
- cosmic curated COSV10941
- ClinVar RCV002440047
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.30
- AlphaMissense 0.44
- MetaLR 0.39
- MetaSVM -0.26
- CADD 20.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)