A13S (p.Ala13Ser) variant of ATP1A2 (P50993)
A13S (p.Ala13Ser) 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 0.44 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- ExAC rs753074130
- TOPMed rs753074130
- gnomAD rs753074130
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.27
- CADD 21.80
- PolyPhen-2 0.22
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available