Q26H (p.Gln26His) variant of SLC6A19 (Q695T7)
Q26H (p.Gln26His) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q26H (p.Gln26His) variant details
- p.Gln26His
- gnomAD 5-1201728-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 2.49
- PolyPhen-2 0.02
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available