H114R (p.His114Arg) variant of ATP7B (Copper-transporting ATPase 2)
H114R (p.His114Arg) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H114R (p.His114Arg) variant details
- p.His114Arg
- TOPMed rs1005310173
- gnomAD rs1005310173
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 5.48
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available