N82D (p.Asn82Asp) variant of ATP7B (Copper-transporting ATPase 2)
N82D (p.Asn82Asp) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar 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 0.18 / 1. The record also includes population frequency data and structural context.
N82D (p.Asn82Asp) variant details
- p.Asn82Asp
- ExAC rs749251753
- gnomAD rs749251753
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 4.58
- PolyPhen-2 0.04
- SIFT 0.18
- ClinVar: Uncertain significance (Wilson disease)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available