R24C (p.Arg24Cys) variant of UNC13D (Protein unc-13 homolog D)
R24C (p.Arg24Cys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, 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.
R24C (p.Arg24Cys) variant details
- p.Arg24Cys
- ExAC rs749234163
- TOPMed rs749234163
- gnomAD rs749234163
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.27
- CADD 27.20
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available