V137G (p.Val137Gly) variant of ATP13A2 (Q9NQ11)
V137G (p.Val137Gly) in ATP13A2 (Q9NQ11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
V137G (p.Val137Gly) variant details
- p.Val137Gly
- TOPMed rs1482100202
- gnomAD rs1482100202
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.39
- CADD 15.00
- PolyPhen-2 0.05
- SIFT 0.07
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available