N8N (p.Asn8Asn) variant of ATP7A (Copper-transporting ATPase 1)
N8N (p.Asn8Asn) in ATP7A (Copper-transporting ATPase 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N8N (p.Asn8Asn) variant details
- p.Asn8Asn
- rs2077547546
- gnomAD X-77971629-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 14.90
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available