I17M (p.Ile17Met) variant of ERCC2 (P18074)
I17M (p.Ile17Met) 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 0.76 / 1. The record also includes published literature and structural context.
I17M (p.Ile17Met) variant details
- p.Ile17Met
- rs1972558937
- ClinGen CA406380046
- ClinVar RCV004518418
- Ensembl rs1972558937
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.42
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 0.89
- SIFT 0.03
- MutPred 0.66
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)