V106I (p.Val106Ile) variant of ATP7B (Copper-transporting ATPase 2)
V106I (p.Val106Ile) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V106I (p.Val106Ile) variant details
- p.Val106Ile
- rs759630649
- ClinGen CA6989586
- ClinVar RCV004015821
- ExAC rs759630649
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.81
- PolyPhen-2 0.03
- SIFT 0.30
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)