Q122R (p.Gln122Arg) variant of ATP13A2 (Q9NQ11)
Q122R (p.Gln122Arg) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q122R (p.Gln122Arg) variant details
- p.Gln122Arg
- gnomAD rs1381282241
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- CADD 8.68
- PolyPhen-2 0.00
- SIFT 0.54
- Population evidence available
- Structural context available