Q42* (p.Gln42Ter) variant of FANCC (Fanconi anemia group C protein)
Q42* (p.Gln42Ter) in FANCC (Fanconi anemia group C protein) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q42* (p.Gln42Ter) variant details
- p.Gln42Ter
- rs758116389
- ClinGen CA5137832
- ClinVar RCV003145116
- ClinVar RCV003635999
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.745
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)