E30D (p.Glu30Asp) variant of SLC6A3 (Q01959)
E30D (p.Glu30Asp) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- gnomAD rs1395371775
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.24
- MetaLR 0.28
- MetaSVM -0.81
- CADD 13.40
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available