C49G (p.Cys49Gly) variant of SLC6A19 (Q695T7)
C49G (p.Cys49Gly) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C49G (p.Cys49Gly) variant details
- p.Cys49Gly
- TOPMed rs1195946651
- gnomAD rs1195946651
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 26.50
- PolyPhen-2 0.69
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available