E27K (p.Glu27Lys) variant of SLC6A19 (Q695T7)
E27K (p.Glu27Lys) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E27K (p.Glu27Lys) variant details
- p.Glu27Lys
- gnomAD 5-1201729-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 1.29
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available