I87V (p.Ile87Val) variant of ATP7B (Copper-transporting ATPase 2)
I87V (p.Ile87Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- gnomAD rs1321226935
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available