M1I (p.Met1Ile) variant of ATP7B (Copper-transporting ATPase 2)
M1I (p.Met1Ile) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs750530407
- ClinGen CA6989721
- ClinVar RCV000668127
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- ESM-1b 0.74
- AlphaMissense 0.26
- MetaLR 0.81
- MetaSVM 0.27
- PolyPhen-2 0.70
- SIFT 0.10
- ClinVar: Uncertain significance (Wilson disease)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)