W100R (p.Trp100Arg) variant of ATP13A2 (Q9NQ11)
W100R (p.Trp100Arg) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
W100R (p.Trp100Arg) variant details
- p.Trp100Arg
- ExAC rs781539788
- TOPMed rs781539788
- gnomAD rs781539788
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.37
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available