H149R (p.His149Arg) variant of ATP13A2 (Q9NQ11)
H149R (p.His149Arg) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
H149R (p.His149Arg) variant details
- p.His149Arg
- ExAC rs778005251
- TOPMed rs778005251
- gnomAD rs778005251
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.08
- CADD 9.96
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available