S6T (p.Ser6Thr) variant of SLC6A1 (P30531)
S6T (p.Ser6Thr) in SLC6A1 (P30531) is a missense change. 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.
S6T (p.Ser6Thr) variant details
- p.Ser6Thr
- ExAC rs758058195
- gnomAD rs758058195
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.14
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available