S36C (p.Ser36Cys) variant of ATP7B (Copper-transporting ATPase 2)
S36C (p.Ser36Cys) 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 ATP7B-related disorder; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S36C (p.Ser36Cys) variant details
- p.Ser36Cys
- rs754996019
- ClinGen CA6989615
- ClinVar RCV002612228
- ClinVar RCV003395614
- Uncertain significance
- ATP7B-related disorder; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.30
- PolyPhen-2 0.68
- SIFT 0.01
- ClinVar: Uncertain significance (ATP7B-related disorder; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)