N34S (p.Asn34Ser) variant of ATP7A (Copper-transporting ATPase 1)
N34S (p.Asn34Ser) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- TOPMed rs2077548384
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.18
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available