Q110R (p.Gln110Arg) variant of ATP7B (Copper-transporting ATPase 2)
Q110R (p.Gln110Arg) 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 0.30 / 1. The record also includes population frequency data and structural context.
Q110R (p.Gln110Arg) variant details
- p.Gln110Arg
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available