G19R (p.Gly19Arg) variant of ATP1A2 (P50993)
G19R (p.Gly19Arg) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- TOPMed rs1347478678
- gnomAD rs1347478678
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.33
- CADD 22.70
- PolyPhen-2 0.08
- SIFT 0.26
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available