A141S (p.Ala141Ser) variant of ATP13A2 (Q9NQ11)
A141S (p.Ala141Ser) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A141S (p.Ala141Ser) variant details
- p.Ala141Ser
- gnomAD rs1274956152
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.16
- CADD 1.14
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available