I48V (p.Ile48Val) variant of ATP13A2 (Q9NQ11)
I48V (p.Ile48Val) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
I48V (p.Ile48Val) variant details
- p.Ile48Val
- ExAC rs764367853
- gnomAD rs764367853
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.08
- CADD 8.98
- PolyPhen-2 0.02
- SIFT 0.81
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available