A38A (p.Ala38Ala) variant of SLC6A1 (P30531)
A38A (p.Ala38Ala) in SLC6A1 (P30531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- gnomAD 3-11017325-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0812
- CADD 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available