K17N (p.Lys17Asn) variant of ATP7B (Copper-transporting ATPase 2)
K17N (p.Lys17Asn) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K17N (p.Lys17Asn) variant details
- p.Lys17Asn
- TOPMed rs1162535023
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 20.70
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available