G117R (p.Gly117Arg) variant of ATP7B (Copper-transporting ATPase 2)
G117R (p.Gly117Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
G117R (p.Gly117Arg) variant details
- p.Gly117Arg
- NCI-TCGA Cosmic COSV9966
- cosmic curated COSV99666
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available