K74N (p.Lys74Asn) variant of ATP7B (Copper-transporting ATPase 2)
K74N (p.Lys74Asn) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
K74N (p.Lys74Asn) variant details
- p.Lys74Asn
- rs587776496
- ClinGen CA233216
- ClinVar RCV000144490
- gnomAD rs587776496
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.40
- MetaSVM -0.54
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Structural context available