V1106D (p.Val1106Asp) variant of ATP7B (Copper-transporting ATPase 2)
V1106D (p.Val1106Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V1106D (p.Val1106Asp) variant details
- p.Val1106Asp
- rs775541743
- ClinGen CA6988740
- ClinVar RCV000411980
- ClinVar RCV001508707
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a… (PMID 18203200)
- Cited in: Efficient detection of mutations in Wilson disease by manifold sequencing. (PMID 8938442)