V103M (p.Val103Met) variant of ATP7B (Copper-transporting ATPase 2)
V103M (p.Val103Met) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V103M (p.Val103Met) variant details
- p.Val103Met
- rs778117355
- ClinGen CA6989589
- ClinVar RCV004013989
- ExAC rs778117355
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.57
- PolyPhen-2 0.21
- SIFT 0.16
- 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)