T85S (p.Thr85Ser) variant of ATP7A (Copper-transporting ATPase 1)
T85S (p.Thr85Ser) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
T85S (p.Thr85Ser) variant details
- p.Thr85Ser
- gnomAD rs1557231588
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.34
- CADD 16.30
- PolyPhen-2 0.05
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)