I86V (p.Ile86Val) variant of ATP7B (Copper-transporting ATPase 2)
I86V (p.Ile86Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
I86V (p.Ile86Val) variant details
- p.Ile86Val
- gnomAD rs1167152438
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.17
- PolyPhen-2 0.04
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available