S18N (p.Ser18Asn) variant of CLCN1 (Chloride channel protein 1)
S18N (p.Ser18Asn) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S18N (p.Ser18Asn) variant details
- p.Ser18Asn
- ExAC rs774525961
- TOPMed rs774525961
- gnomAD rs774525961
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available