V73L (p.Val73Leu) variant of ATP13A2 (Q9NQ11)
V73L (p.Val73Leu) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V73L (p.Val73Leu) variant details
- p.Val73Leu
- gnomAD rs1264349572
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.12
- CADD 24.80
- PolyPhen-2 0.67
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available