Q7H (p.Gln7His) variant of ATP7B (Copper-transporting ATPase 2)
Q7H (p.Gln7His) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- Ensembl rs768852127
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 7.38
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available