P11S (p.Pro11Ser) variant of ATP1A2 (P50993)
P11S (p.Pro11Ser) 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 0.41 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- TOPMed rs1432353546
- gnomAD rs1432353546
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.23
- CADD 18.40
- PolyPhen-2 0.04
- SIFT 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available