I32T (p.Ile32Thr) variant of CLCNKB (Chloride channel protein ClC-Kb)
I32T (p.Ile32Thr) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I32T (p.Ile32Thr) variant details
- p.Ile32Thr
- rs1431164824
- gnomAD rs1431164824
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.24
- CADD 19.40
- PolyPhen-2 0.09
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available