S6I (p.Ser6Ile) variant of SLC6A1 (P30531)
S6I (p.Ser6Ile) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- ExAC rs758058195
- gnomAD rs758058195
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.14
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available