G120C (p.Gly120Cys) variant of ATP7B (Copper-transporting ATPase 2)
G120C (p.Gly120Cys) 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 0.76 / 1. The record also includes structural context.
G120C (p.Gly120Cys) variant details
- p.Gly120Cys
- NCI-TCGA Cosmic COSV5443
- cosmic curated COSV54438
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- ESM-1b 1.00
- AlphaMissense 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available