S42P (p.Ser42Pro) variant of ATP7A (Copper-transporting ATPase 1)
S42P (p.Ser42Pro) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S42P (p.Ser42Pro) variant details
- p.Ser42Pro
- gnomAD X-77975517-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 4.97
- Population evidence available
- Structural context available
- Literature evidence available