A23A (p.Ala23Ala) variant of SLC6A1 (P30531)
A23A (p.Ala23Ala) in SLC6A1 (P30531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A23A (p.Ala23Ala) variant details
- p.Ala23Ala
- gnomAD 3-11017280-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 14.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available