R27L (p.Arg27Leu) variant of ATP7B (Copper-transporting ATPase 2)
R27L (p.Arg27Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- ESP rs371345946
- ExAC rs371345946
- TOPMed rs371345946
- gnomAD rs371345946
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 4.52
- PolyPhen-2 0.07
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available