D45D (p.Asp45Asp) variant of SLC6A1 (P30531)
D45D (p.Asp45Asp) in SLC6A1 (P30531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D45D (p.Asp45Asp) variant details
- p.Asp45Asp
- rs1559621800
- gnomAD 3-11017346-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 11.20
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available