S36T (p.Ser36Thr) variant of ATP7B (Copper-transporting ATPase 2)
S36T (p.Ser36Thr) 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 Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S36T (p.Ser36Thr) variant details
- p.Ser36Thr
- rs2547826027
- ClinGen CA388045317
- ClinVar RCV002944127
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 12.90
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)