D68G (p.Asp68Gly) variant of ATP7A (Copper-transporting ATPase 1)
D68G (p.Asp68Gly) in ATP7A (Copper-transporting ATPase 1) 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 0.69 / 1. The record also includes population frequency data and structural context.
D68G (p.Asp68Gly) variant details
- p.Asp68Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.84
- CADD 25.50
- PolyPhen-2 0.78
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available