A2A (p.Ala2Ala) variant of SLC6A1 (P30531)
A2A (p.Ala2Ala) in SLC6A1 (P30531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 3-11017217-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available