G22E (p.Gly22Glu) variant of ATP13A2 (Q9NQ11)
G22E (p.Gly22Glu) in ATP13A2 (Q9NQ11) is a missense change. Clinical records from ClinVar 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 0.29 / 1. The record also includes population frequency data and structural context.
G22E (p.Gly22Glu) variant details
- p.Gly22Glu
- gnomAD rs1439673688
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.32
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available