S15R (p.Ser15Arg) variant of ATP7B (Copper-transporting ATPase 2)
S15R (p.Ser15Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Wilson disease; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- ExAC rs761353425
- TOPMed rs761353425
- gnomAD rs761353425
- Uncertain significance
- Wilson disease; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Wilson disease; not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available