A2T (p.Ala2Thr) variant of SLC6A1 (P30531)
A2T (p.Ala2Thr) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD rs1297686453
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.31
- CADD 27.00
- PolyPhen-2 0.57
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available