S17T (p.Ser17Thr) variant of SLC6A19 (Q695T7)
S17T (p.Ser17Thr) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S17T (p.Ser17Thr) variant details
- p.Ser17Thr
- TOPMed rs1377869811
- gnomAD rs1377869811
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available