C19W (p.Cys19Trp) variant of ATP7A (Copper-transporting ATPase 1)
C19W (p.Cys19Trp) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
C19W (p.Cys19Trp) variant details
- p.Cys19Trp
- ESP rs145406974
- ExAC rs145406974
- gnomAD rs145406974
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.86
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available