L70R (p.Leu70Arg) variant of ATP13A2 (Q9NQ11)
L70R (p.Leu70Arg) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
L70R (p.Leu70Arg) variant details
- p.Leu70Arg
- gnomAD rs1235924841
- Missense
- Variant Prioritization Score for Impact Estimate 0.0873
- REVEL 0.09
- CADD 2.26
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available