G120D (p.Gly120Asp) variant of ATP7B (Copper-transporting ATPase 2)
G120D (p.Gly120Asp) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G120D (p.Gly120Asp) variant details
- p.Gly120Asp
- cosmic curated COSV99666
- ExAC rs780697681
- gnomAD rs780697681
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 23.30
- PolyPhen-2 0.52
- SIFT 0.06
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available