R51* (p.Arg51Ter) variant of UNC80 (Protein unc-80 homolog)
R51* (p.Arg51Ter) in UNC80 (Protein unc-80 homolog) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R51* (p.Arg51Ter) variant details
- p.Arg51Ter
- rs869025320
- ClinGen CA351629
- cosmic curated COSV55900
- ClinVar RCV000207465
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to… (PMID 26545877)
- Cited in: UNC80 Deficiency. (PMID 28933810)