S20A (p.Ser20Ala) variant of ATP7B (Copper-transporting ATPase 2)
S20A (p.Ser20Ala) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S20A (p.Ser20Ala) variant details
- p.Ser20Ala
- rs1233056586
- ClinGen CA388045420
- ClinVar RCV004008028
- gnomAD rs1233056586
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.50
- PolyPhen-2 0.18
- SIFT 0.09
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)