K32N (p.Lys32Asn) variant of ATP7A (Copper-transporting ATPase 1)
K32N (p.Lys32Asn) in ATP7A (Copper-transporting ATPase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
K32N (p.Lys32Asn) variant details
- p.Lys32Asn
- rs1430449227
- gnomAD X-77923100-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.078
- CADD 0.51
- Most common in the East Asian population (allele frequency 0.00055)
- Structural context available
- Literature evidence available