G2W (p.Gly2Trp) variant of ATP1A3 (P13637)
G2W (p.Gly2Trp) 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 0.74 / 1. The record also includes population frequency data and structural context.
G2W (p.Gly2Trp) variant details
- p.Gly2Trp
- 1000Genomes rs2145995411
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- CADD 26.40
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available