V35A (p.Val35Ala) variant of ATP13A2 (Q9NQ11)
V35A (p.Val35Ala) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- TOPMed rs2077532054
- gnomAD rs2077532054
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.11
- CADD 25.70
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available