R19P (p.Arg19Pro) variant of ATP1A3 (P13637)
R19P (p.Arg19Pro) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, 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 0.56 / 1. The record also includes structural context.
R19P (p.Arg19Pro) variant details
- p.Arg19Pro
- rs782596240
- ClinGen CA406057814
- ClinVar RCV003415259
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.20
- MetaLR 0.58
- MetaSVM 0.42
- PolyPhen-2 0.22
- SIFT 0.03
- MutPred 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available