T888S (p.Thr888Ser) variant of ATP7B (Copper-transporting ATPase 2)
T888S (p.Thr888Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T888S (p.Thr888Ser) variant details
- p.Thr888Ser
- rs1455758826
- ClinGen CA388034459
- ClinVar RCV002023924
- ClinVar RCV002509746
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 23.20
- PolyPhen-2 0.24
- SIFT 0.02
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- 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)