S33* (p.Ser33Ter) variant of ATP13A2 (Q9NQ11)
S33* (p.Ser33Ter) in ATP13A2 (Q9NQ11) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
S33* (p.Ser33Ter) variant details
- p.Ser33Ter
- NCI-TCGA TCGA novel
- gnomAD rs1418201460
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.831
- CADD 37.00
- PolyPhen-2 0.30
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available