I76V (p.Ile76Val) variant of ATP7B (Copper-transporting ATPase 2)
I76V (p.Ile76Val) 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 Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I76V (p.Ile76Val) variant details
- p.Ile76Val
- rs200642204
- ClinGen CA6989601
- ClinVar RCV000757023
- ClinVar RCV001034284
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.39
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM 0.06
- CADD 16.40
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)