M119L (p.Met119Leu) variant of ATP7B (Copper-transporting ATPase 2)
M119L (p.Met119Leu) 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 0.48 / 1. The record also includes population frequency data and structural context.
M119L (p.Met119Leu) variant details
- p.Met119Leu
- 1000Genomes rs534726612
- ExAC rs534726612
- gnomAD rs534726612
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.51
- ESM-1b 0.59
- AlphaMissense 0.13
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.55
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available