N41K (p.Asn41Lys) variant of ATP7B (Copper-transporting ATPase 2)
N41K (p.Asn41Lys) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign in the context of in WD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N41K (p.Asn41Lys) variant details
- p.Asn41Lys
- TOPMed rs1483616454
- gnomAD rs1483616454
- Likely benign
- in WD
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.68
- CADD 16.10
- EBI: Likely benign (in WD)
- UniProt: Likely benign (in WD)
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available