V107L (p.Val107Leu) variant of ATP7B (Copper-transporting ATPase 2)
V107L (p.Val107Leu) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V107L (p.Val107Leu) variant details
- p.Val107Leu
- ExAC rs754003539
- TOPMed rs754003539
- gnomAD rs754003539
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.48
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available