E27V (p.Glu27Val) variant of SLC6A19 (Q695T7)
E27V (p.Glu27Val) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- gnomAD 5-1201730-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 16.70
- PolyPhen-2 0.13
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available