M996T (p.Met996Thr) variant of ATP7B (Copper-transporting ATPase 2)
M996T (p.Met996Thr) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
M996T (p.Met996Thr) variant details
- p.Met996Thr
- rs770782111
- ClinGen CA6988845
- ClinVar RCV001378212
- ClinVar RCV003426062
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 25.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry. (PMID 16088907)
- Cited in: The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease. (PMID 10051024)