Q19* (p.Gln19Ter) variant of C5 (Complement C5)
Q19* (p.Gln19Ter) in C5 (Complement C5) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- rs121909587
- ClinGen CA127051
- ClinVar RCV000018578
- ClinVar RCV001390773
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and… (PMID 7730648)
- Cited in: Lathosterolosis. (PMID 38060690)