P27L (p.Pro27Leu) variant of ATP13A2 (Q9NQ11)
P27L (p.Pro27Leu) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- ExAC rs768964549
- gnomAD rs768964549
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.36
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available