Y41H (p.Tyr41His) variant of SLC6A19 (Q695T7)
Y41H (p.Tyr41His) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Y41H (p.Tyr41His) variant details
- p.Tyr41His
- gnomAD 5-1201771-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available