N92S (p.Asn92Ser) variant of ERCC2 (P18074)
N92S (p.Asn92Ser) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
N92S (p.Asn92Ser) variant details
- p.Asn92Ser
- rs780965895
- ClinGen CA9513840
- ClinVar RCV000500978
- ClinVar RCV002527246
- Conflicting interpretations
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.07
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)
- 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)