S97R (p.Ser97Arg) variant of ATP7B (Copper-transporting ATPase 2)
S97R (p.Ser97Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S97R (p.Ser97Arg) variant details
- p.Ser97Arg
- Ensembl rs1593791806
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.32
- ESM-1b 0.08
- AlphaMissense 0.20
- CADD 6.69
- PolyPhen-2 0.48
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available