E20R (p.Glu20Arg) variant of SLC12A2 (P55011)
E20R (p.Glu20Arg) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E20R (p.Glu20Arg) variant details
- p.Glu20Arg
- gnomAD 5-128084008-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 23.80
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available