E19G (p.Glu19Gly) variant of SLC6A1 (P30531)
E19G (p.Glu19Gly) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
E19G (p.Glu19Gly) variant details
- p.Glu19Gly
- ExAC rs777727228
- gnomAD rs777727228
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available