L88V (p.Leu88Val) variant of ATP13A2 (Q9NQ11)
L88V (p.Leu88Val) 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.
L88V (p.Leu88Val) variant details
- p.Leu88Val
- TOPMed rs2077515464
- gnomAD rs2077515464
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.05
- CADD 19.60
- PolyPhen-2 0.23
- SIFT 0.64
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available