A20T (p.Ala20Thr) variant of SLC6A1 (P30531)
A20T (p.Ala20Thr) in SLC6A1 (P30531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- ExAC rs749474714
- TOPMed rs749474714
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.26
- SIFT 0.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available