A2G (p.Ala2Gly) variant of SLC18A2 (Q05940)
A2G (p.Ala2Gly) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- 1000Genomes rs554627946
- ExAC rs554627946
- TOPMed rs554627946
- gnomAD rs554627946
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 24.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available