V32I (p.Val32Ile) variant of ATP13A2 (Q9NQ11)
V32I (p.Val32Ile) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- TOPMed rs1158449120
- gnomAD rs1158449120
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.28
- CADD 19.50
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available