P79L (p.Pro79Leu) variant of ATP13A2 (Q9NQ11)
P79L (p.Pro79Leu) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- gnomAD rs1293000670
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.41
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available