C69C (p.Cys69Cys) variant of SLC12A1 (Q13621)
C69C (p.Cys69Cys) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
C69C (p.Cys69Cys) variant details
- p.Cys69Cys
- gnomAD 15-48207926-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 9.65
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available