L43P (p.Leu43Pro) variant of SLC6A19 (Q695T7)
L43P (p.Leu43Pro) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- gnomAD 5-1201778-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available