S6G (p.Ser6Gly) variant of SLC6A1 (P30531)
S6G (p.Ser6Gly) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- TOPMed rs1216515269
- gnomAD rs1216515269
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.12
- CADD 20.80
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available