V5G (p.Val5Gly) variant of SLC6A19 (Q695T7)
V5G (p.Val5Gly) in SLC6A19 (Q695T7) 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, published literature, and structural context.
V5G (p.Val5Gly) variant details
- p.Val5Gly
- gnomAD 5-1201664-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 17.00
- PolyPhen-2 0.28
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available