I116T (p.Ile116Thr) variant of ATP7B (Copper-transporting ATPase 2)
I116T (p.Ile116Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
I116T (p.Ile116Thr) variant details
- p.Ile116Thr
- rs199773340
- ClinGen CA6989581
- ClinVar RCV000755833
- ClinVar RCV001239682
- Conflicting interpretations
- not provided; Inborn genetic diseases; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.37
- CADD 24.50
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- 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)