I116V (p.Ile116Val) variant of ATP7B (Copper-transporting ATPase 2)
I116V (p.Ile116Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I116V (p.Ile116Val) variant details
- p.Ile116Val
- ExAC rs768491585
- gnomAD rs768491585
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 13.60
- PolyPhen-2 0.02
- SIFT 0.42
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available