S88G (p.Ser88Gly) variant of ATP7B (Copper-transporting ATPase 2)
S88G (p.Ser88Gly) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S88G (p.Ser88Gly) variant details
- p.Ser88Gly
- rs755634625
- ClinGen CA6989595
- ClinVar RCV002632824
- ClinVar RCV003481401
- Uncertain significance
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.37
- ESM-1b 0.62
- AlphaMissense 0.06
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (not provided; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)