K34T (p.Lys34Thr) variant of SLC6A19 (Q695T7)
K34T (p.Lys34Thr) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K34T (p.Lys34Thr) variant details
- p.Lys34Thr
- gnomAD 5-1201751-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.17
- ESM-1b 0.09
- AlphaMissense 0.13
- CADD 21.40
- PolyPhen-2 0.10
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available