G39A (p.Gly39Ala) variant of ATP13A2 (Q9NQ11)
G39A (p.Gly39Ala) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- gnomAD rs1168556655
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.23
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available