V32L (p.Val32Leu) variant of ATP13A2 (Q9NQ11)
V32L (p.Val32Leu) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- TOPMed rs1158449120
- gnomAD rs1158449120
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.28
- CADD 19.60
- PolyPhen-2 0.06
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available