A38T (p.Ala38Thr) variant of SLC6A1 (P30531)
A38T (p.Ala38Thr) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- cosmic curated COSV55113
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.14
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available