R194W (p.Arg194Trp) variant of ATP1A3 (P13637)
R194W (p.Arg194Trp) 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 0.63 / 1. The record also includes population frequency data and structural context.
R194W (p.Arg194Trp) variant details
- p.Arg194Trp
- rs1246646193
- ClinGen CA406054317
- NCI-TCGA Cosmic COSV5749
- cosmic curated COSV57490
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available