R14L (p.Arg14Leu) variant of SLC6A19 (Q695T7)
R14L (p.Arg14Leu) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- gnomAD 5-1201691-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.55
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available