G52V (p.Gly52Val) variant of ATP7B (Copper-transporting ATPase 2)
G52V (p.Gly52Val) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G52V (p.Gly52Val) variant details
- p.Gly52Val
- TOPMed rs1353356443
- gnomAD rs1353356443
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 2.81
- PolyPhen-2 0.02
- SIFT 0.52
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available