R11S (p.Arg11Ser) variant of ATP7B (Copper-transporting ATPase 2)
R11S (p.Arg11Ser) 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.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- rs753613009
- ClinGen CA6989715
- ClinVar RCV003065747
- ExAC rs753613009
- Uncertain significance
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Wilson disease)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)