S23Q (p.Ser23Gln) variant of SLC12A2 (P55011)
S23Q (p.Ser23Gln) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S23Q (p.Ser23Gln) variant details
- p.Ser23Gln
- gnomAD 5-128084019-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.33
- CADD 16.20
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available