A83T (p.Ala83Thr) variant of ATP13A2 (Q9NQ11)
A83T (p.Ala83Thr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- gnomAD rs1346827451
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.11
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available