G10V (p.Gly10Val) variant of SLC6A19 (Q695T7)
G10V (p.Gly10Val) in SLC6A19 (Q695T7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- ESP rs142954960
- ExAC rs142954960
- TOPMed rs142954960
- gnomAD rs142954960
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.31
- CADD 24.00
- PolyPhen-2 0.85
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available