R188Q (p.Arg188Gln) variant of ATP1A3 (P13637)
R188Q (p.Arg188Gln) in ATP1A3 (P13637) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R188Q (p.Arg188Gln) variant details
- p.Arg188Gln
- cosmic curated COSV57489
- TOPMed rs1555865260
- gnomAD rs1555865260
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- CADD 24.70
- PolyPhen-2 0.28
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available