T18T (p.Thr18Thr) variant of SLC12A1 (Q13621)
T18T (p.Thr18Thr) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T18T (p.Thr18Thr) variant details
- p.Thr18Thr
- gnomAD 15-48207773-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 6.85
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available