S130R (p.Ser130Arg) variant of ATP13A2 (Q9NQ11)
S130R (p.Ser130Arg) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S130R (p.Ser130Arg) variant details
- p.Ser130Arg
- gnomAD rs1222487351
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.19
- CADD 16.70
- PolyPhen-2 0.10
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available