P13T (p.Pro13Thr) variant of ATP13A2 (Q9NQ11)
P13T (p.Pro13Thr) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- gnomAD rs1438068941
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.10
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available