R163W (p.Arg163Trp) variant of ATP1A3 (P13637)
R163W (p.Arg163Trp) in ATP1A3 (P13637) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R163W (p.Arg163Trp) variant details
- p.Arg163Trp
- rs2514078912
- ClinGen CA406054745
- ClinVar RCV003325843
- ClinVar RCV004701036
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available