S18T (p.Ser18Thr) variant of CLCN1 (Chloride channel protein 1)
S18T (p.Ser18Thr) in CLCN1 (Chloride channel protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- rs1802289255
- gnomAD 7-143316261-GGTAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 28.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Literature evidence available