K23R (p.Lys23Arg) variant of ATP1A2 (P50993)
K23R (p.Lys23Arg) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K23R (p.Lys23Arg) variant details
- p.Lys23Arg
- TOPMed rs1192524870
- gnomAD rs1192524870
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.16
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available