K35E (p.Lys35Glu) variant of ATP7B (Copper-transporting ATPase 2)
K35E (p.Lys35Glu) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
K35E (p.Lys35Glu) variant details
- p.Lys35Glu
- gnomAD rs1057516516
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available