R63S (p.Arg63Ser) variant of ATP7B (Copper-transporting ATPase 2)
R63S (p.Arg63Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R63S (p.Arg63Ser) variant details
- p.Arg63Ser
- TOPMed rs1238894954
- gnomAD rs1238894954
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 3.73
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available