T50T (p.Thr50Thr) variant of SLC12A3 (P55017)
T50T (p.Thr50Thr) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
T50T (p.Thr50Thr) variant details
- p.Thr50Thr
- rs1964327877
- gnomAD 16-56865385-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 9.31
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Literature evidence available