M1025T (p.Met1025Thr) variant of ATP7B (Copper-transporting ATPase 2)
M1025T (p.Met1025Thr) 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 specified; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
M1025T (p.Met1025Thr) variant details
- p.Met1025Thr
- rs1555286633
- ClinGen CA388030698
- ClinVar RCV004014910
- ClinVar RCV004690503
- Uncertain significance
- not specified; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 1.02
- CADD 26.40
- ClinVar: Uncertain significance (not specified; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)