W71C (p.Trp71Cys) variant of ATP13A2 (Q9NQ11)
W71C (p.Trp71Cys) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
W71C (p.Trp71Cys) variant details
- p.Trp71Cys
- gnomAD rs1468568465
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available