G39D (p.Gly39Asp) variant of ATP13A2 (Q9NQ11)
G39D (p.Gly39Asp) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- gnomAD rs1168556655
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.40
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available