R11G (p.Arg11Gly) variant of ATP7B (Copper-transporting ATPase 2)
R11G (p.Arg11Gly) 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.
R11G (p.Arg11Gly) variant details
- p.Arg11Gly
- Ensembl rs936715711
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 9.66
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available