S42S (p.Ser42Ser) variant of ATP7A (Copper-transporting ATPase 1)
S42S (p.Ser42Ser) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S42S (p.Ser42Ser) variant details
- p.Ser42Ser
- gnomAD X-77975519-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 4.28
- Population evidence available
- Structural context available
- Literature evidence available