I1230V (p.Ile1230Val) variant of ATP7B (Copper-transporting ATPase 2)
I1230V (p.Ile1230Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Wilson disease; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
I1230V (p.Ile1230Val) variant details
- p.Ile1230Val
- rs200911496
- ClinGen CA6988609
- cosmic curated COSV10502
- ClinVar RCV000331049
- Conflicting interpretations
- Wilson disease; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.87
- MetaSVM 0.88
- CADD 26.10
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in WD)
- UniProt: Pathogenic (in WD)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. (PMID 18373411)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)