P58A (p.Pro58Ala) variant of CLCN1 (Chloride channel protein 1)
P58A (p.Pro58Ala) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- ExAC rs779274886
- TOPMed rs779274886
- gnomAD rs779274886
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.26
- CADD 16.90
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available