P54S (p.Pro54Ser) variant of ATP7A (Copper-transporting ATPase 1)
P54S (p.Pro54Ser) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- ExAC rs782424899
- gnomAD rs782424899
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.19
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available