V73M (p.Val73Met) variant of ATP13A2 (Q9NQ11)
V73M (p.Val73Met) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V73M (p.Val73Met) variant details
- p.Val73Met
- gnomAD rs1264349572
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.20
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available