R27C (p.Arg27Cys) variant of ATP7B (Copper-transporting ATPase 2)
R27C (p.Arg27Cys) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- cosmic curated COSV54438
- ExAC rs769852412
- TOPMed rs769852412
- gnomAD rs769852412
- Conflicting interpretations
- Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Conflicting classifications of pathogenicity (Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available