R53L (p.Arg53Leu) variant of ATP1A1 (P05023)
R53L (p.Arg53Leu) in ATP1A1 (P05023) 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 0.52 / 1. The record also includes population frequency data and structural context.
R53L (p.Arg53Leu) variant details
- p.Arg53Leu
- ESP rs369738549
- ExAC rs369738549
- TOPMed rs369738549
- gnomAD rs369738549
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.49
- MetaLR 0.32
- MetaSVM -0.43
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Amish population (allele frequency 0.17)
- Structural context available