P138A (p.Pro138Ala) variant of ATP13A2 (Q9NQ11)
P138A (p.Pro138Ala) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P138A (p.Pro138Ala) variant details
- p.Pro138Ala
- gnomAD rs2077487451
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.20
- CADD 16.50
- PolyPhen-2 0.05
- SIFT 0.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available