N92K (p.Asn92Lys) variant of ERCC2 (P18074)
N92K (p.Asn92Lys) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N92K (p.Asn92Lys) variant details
- p.Asn92Lys
- rs982806873
- ClinGen CA406378648
- ClinVar RCV003172462
- ClinGen CA406378651
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.03
- AlphaMissense 0.22
- MetaLR 0.41
- MetaSVM -0.42
- CADD 12.90
- PolyPhen-2 0.93
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-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)