G5R (p.Gly5Arg) variant of SLC6A1 (P30531)
G5R (p.Gly5Arg) in SLC6A1 (P30531) 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 0.32 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- ExAC rs551940721
- TOPMed rs551940721
- gnomAD rs551940721
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.32
- CADD 23.80
- PolyPhen-2 0.45
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available