G10S (p.Gly10Ser) variant of ATP13A2 (Q9NQ11)
G10S (p.Gly10Ser) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- gnomAD rs1162022004
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.24
- CADD 23.60
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available