P79R (p.Pro79Arg) variant of ATP13A2 (Q9NQ11)
P79R (p.Pro79Arg) 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.
P79R (p.Pro79Arg) variant details
- p.Pro79Arg
- gnomAD rs1293000670
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.16
- CADD 20.30
- PolyPhen-2 0.14
- SIFT 0.54
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available