S17C (p.Ser17Cys) variant of SLC6A19 (Q695T7)
S17C (p.Ser17Cys) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- ExAC rs754779609
- gnomAD rs754779609
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.33
- ESM-1b 0.80
- AlphaMissense 0.19
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available