R3S (p.Arg3Ser) variant of ATP1A2 (P50993)
R3S (p.Arg3Ser) in ATP1A2 (P50993) 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 0.59 / 1. The record also includes population frequency data and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- ExAC rs755450946
- gnomAD rs755450946
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.48
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available