E39Q (p.Glu39Gln) variant of SLC6A4 (P31645)
E39Q (p.Glu39Gln) in SLC6A4 (P31645) 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.
E39Q (p.Glu39Gln) variant details
- p.Glu39Gln
- ExAC rs757599379
- gnomAD rs757599379
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.11
- MetaSVM -0.96
- CADD 12.30
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available