I1102T (p.Ile1102Thr) variant of ATP7B (Copper-transporting ATPase 2)
I1102T (p.Ile1102Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I1102T (p.Ile1102Thr) variant details
- p.Ile1102Thr
- rs560952220
- ClinGen CA6988743
- ClinVar RCV000495835
- ClinVar RCV003480655
- Pathogenic/Likely pathogenic
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.75
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Wilson disease)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Molecular diagnosis of Wilson disease. (PMID 11243728)
- Cited in: Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease… (PMID 15811015)