K21R (p.Lys21Arg) variant of ATP7B (Copper-transporting ATPase 2)
K21R (p.Lys21Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
K21R (p.Lys21Arg) variant details
- p.Lys21Arg
- 1000Genomes rs199514391
- ExAC rs199514391
- TOPMed rs199514391
- gnomAD rs199514391
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available