T7del (p.Thr7del) variant of SLC12A3 (P55017)
T7del (p.Thr7del) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T7del (p.Thr7del) variant details
- rs763922717
- gnomAD 16-56865248-CCCA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 6.53
- Population evidence available
- Structural context available
- Literature evidence available