L4P (p.Leu4Pro) variant of SLC6A19 (Q695T7)
L4P (p.Leu4Pro) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- gnomAD rs1346240173
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available