A38S (p.Ala38Ser) variant of ATP1A2 (P50993)
A38S (p.Ala38Ser) in ATP1A2 (P50993) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- 1000Genomes rs201688946
- ExAC rs201688946
- TOPMed rs201688946
- gnomAD rs201688946
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.18
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available