E27E (p.Glu27Glu) variant of SLC6A19 (Q695T7)
E27E (p.Glu27Glu) in SLC6A19 (Q695T7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E27E (p.Glu27Glu) variant details
- p.Glu27Glu
- gnomAD 5-1201731-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 1.19
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available