G135V (p.Gly135Val) variant of ATP13A2 (Q9NQ11)
G135V (p.Gly135Val) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G135V (p.Gly135Val) variant details
- p.Gly135Val
- TOPMed rs2077487952
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.62
- CADD 18.70
- PolyPhen-2 0.95
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available