L19V (p.Leu19Val) variant of ATP13A2 (Q9NQ11)
L19V (p.Leu19Val) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD rs1259931850
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.25
- CADD 24.40
- PolyPhen-2 0.76
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available