A29S (p.Ala29Ser) variant of SLC6A19 (Q695T7)
A29S (p.Ala29Ser) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- gnomAD 5-1201735-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 9.30
- PolyPhen-2 0.01
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available