E19D (p.Glu19Asp) variant of SLC6A1 (P30531)
E19D (p.Glu19Asp) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E19D (p.Glu19Asp) variant details
- p.Glu19Asp
- gnomAD rs1379281802
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.11
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available