L11R (p.Leu11Arg) variant of SLC6A19 (Q695T7)
L11R (p.Leu11Arg) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L11R (p.Leu11Arg) variant details
- p.Leu11Arg
- gnomAD 5-1201682-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.46
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available