K17I (p.Lys17Ile) variant of ATP7B (Copper-transporting ATPase 2)
K17I (p.Lys17Ile) in ATP7B (Copper-transporting ATPase 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
K17I (p.Lys17Ile) variant details
- p.Lys17Ile
- TOPMed rs1193792042
- gnomAD rs1193792042
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available