N82S (p.Asn82Ser) variant of ATP7B (Copper-transporting ATPase 2)
N82S (p.Asn82Ser) 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 provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N82S (p.Asn82Ser) variant details
- p.Asn82Ser
- rs1555296815
- ClinGen CA388044777
- ClinVar RCV000594979
- ClinVar RCV002476335
- Uncertain significance
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (not provided; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)