A85T (p.Ala85Thr) variant of ATP13A2 (Q9NQ11)
A85T (p.Ala85Thr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A85T (p.Ala85Thr) variant details
- p.Ala85Thr
- Ensembl rs1553172504
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.34
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available