T59I (p.Thr59Ile) variant of CLCN1 (Chloride channel protein 1)
T59I (p.Thr59Ile) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T59I (p.Thr59Ile) variant details
- p.Thr59Ile
- gnomAD 7-143316388-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- CADD 21.10
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available