K89E (p.Lys89Glu) variant of ERCC2 (P18074)
K89E (p.Lys89Glu) in ERCC2 (P18074) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
K89E (p.Lys89Glu) variant details
- p.Lys89Glu
- rs2514044039
- ClinGen CA406378754
- ClinVar RCV003172454
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.47
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.69
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)