G113S (p.Gly113Ser) variant of ATP13A2 (Q9NQ11)
G113S (p.Gly113Ser) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
G113S (p.Gly113Ser) variant details
- p.Gly113Ser
- ExAC rs750571443
- TOPMed rs750571443
- gnomAD rs750571443
- Missense
- Variant Prioritization Score for Impact Estimate 0.0628
- REVEL 0.04
- CADD 3.47
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available