S42T (p.Ser42Thr) variant of ATP7A (Copper-transporting ATPase 1)
S42T (p.Ser42Thr) 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, published literature, and structural context.
S42T (p.Ser42Thr) variant details
- p.Ser42Thr
- gnomAD X-77975517-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 4.03
- Population evidence available
- Structural context available
- Literature evidence available