R79S (p.Arg79Ser) variant of ATP7B (Copper-transporting ATPase 2)
R79S (p.Arg79Ser) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R79S (p.Arg79Ser) variant details
- p.Arg79Ser
- 1000Genomes rs554234394
- ExAC rs554234394
- TOPMed rs554234394
- gnomAD rs554234394
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 6.15
- PolyPhen-2 0.07
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available