I62I (p.Ile62Ile) variant of SLC6A1 (P30531)
I62I (p.Ile62Ile) in SLC6A1 (P30531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I62I (p.Ile62Ile) variant details
- p.Ile62Ile
- rs1465313059
- gnomAD 3-11017397-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 6.19
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available