R4G (p.Arg4Gly) variant of SLC12A2 (P55011)
R4G (p.Arg4Gly) in SLC12A2 (P55011) 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.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- gnomAD 5-128083963-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 18.60
- Population evidence available
- Structural context available
- Literature evidence available