S18G (p.Ser18Gly) variant of CLCN1 (Chloride channel protein 1)
S18G (p.Ser18Gly) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S18G (p.Ser18Gly) variant details
- p.Ser18Gly
- Ensembl rs1586479385
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.17
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available