G117V (p.Gly117Val) variant of ATP7B (Copper-transporting ATPase 2)
G117V (p.Gly117Val) 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 0.28 / 1. The record also includes structural context.
G117V (p.Gly117Val) variant details
- p.Gly117Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.43
- MetaSVM -0.45
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available