R194G (p.Arg194Gly) variant of ATP1A3 (P13637)
R194G (p.Arg194Gly) in ATP1A3 (P13637) 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 0.62 / 1. The record also includes population frequency data and structural context.
R194G (p.Arg194Gly) variant details
- p.Arg194Gly
- TOPMed rs1246646193
- gnomAD rs1246646193
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available