C57C (p.Cys57Cys) variant of SLC6A1 (P30531)
C57C (p.Cys57Cys) 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.
C57C (p.Cys57Cys) variant details
- p.Cys57Cys
- rs1697196529
- gnomAD 3-11017382-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 6.20
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available