S42F (p.Ser42Phe) variant of ATP7A (Copper-transporting ATPase 1)
S42F (p.Ser42Phe) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- rs782728536
- gnomAD X-77971772-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- CADD 15.20
- Population evidence available
- Structural context available
- Literature evidence available