W16C (p.Trp16Cys) variant of CLCN1 (Chloride channel protein 1)
W16C (p.Trp16Cys) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
W16C (p.Trp16Cys) variant details
- p.Trp16Cys
- TOPMed rs1434585576
- gnomAD rs1434585576
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.63
- CADD 26.70
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available