Q95K (p.Gln95Lys) variant of ATP7B (Copper-transporting ATPase 2)
Q95K (p.Gln95Lys) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q95K (p.Gln95Lys) variant details
- p.Gln95Lys
- ExAC rs756929892
- TOPMed rs756929892
- gnomAD rs756929892
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 17.70
- PolyPhen-2 0.03
- SIFT 0.31
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available