R16* (p.Arg16Ter) variant of UNC80 (Protein unc-80 homolog)
R16* (p.Arg16Ter) in UNC80 (Protein unc-80 homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and published literature.
R16* (p.Arg16Ter) variant details
- p.Arg16Ter
- rs2153824303
- ClinGen CA2573130384
- ClinVar RCV002039883
- ClinVar RCV005863503
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 30.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Cited in: UNC80 Deficiency. (PMID 28933810)