G47C (p.Gly47Cys) variant of SLC6A19 (Q695T7)
G47C (p.Gly47Cys) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G47C (p.Gly47Cys) variant details
- p.Gly47Cys
- gnomAD rs1745708834
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.95
- ESM-1b 0.97
- AlphaMissense 0.81
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available