C16Q (p.Cys16Gln) variant of SLC12A3 (P55017)
C16Q (p.Cys16Gln) in SLC12A3 (P55017) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
C16Q (p.Cys16Gln) variant details
- p.Cys16Gln
- rs1567423490
- gnomAD 16-56865278-TTG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available