R32G (p.Arg32Gly) variant of SLC6A19 (Q695T7)
R32G (p.Arg32Gly) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R32G (p.Arg32Gly) variant details
- p.Arg32Gly
- gnomAD 5-1201744-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available