T7R (p.Thr7Arg) variant of SLC12A3 (P55017)
T7R (p.Thr7Arg) in SLC12A3 (P55017) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- rs750710315
- gnomAD 16-56865253-AAC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.60
- Population evidence available
- Structural context available
- Literature evidence available