Q13* (p.Gln13Ter) variant of FANCC (Fanconi anemia group C protein)
Q13* (p.Gln13Ter) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q13* (p.Gln13Ter) variant details
- p.Gln13Ter
- rs121917784
- ClinGen CA287210
- ClinVar RCV000012826
- ClinVar RCV000115351
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.53
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. (PMID 8103176)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)