I90T (p.Ile90Thr) variant of ATP13A2 (Q9NQ11)
I90T (p.Ile90Thr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I90T (p.Ile90Thr) variant details
- p.Ile90Thr
- cosmic curated COSV10045
- gnomAD rs1487807472
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.24
- CADD 27.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available