Q32* (p.Gln32Ter) variant of FANCC (Fanconi anemia group C protein)
Q32* (p.Gln32Ter) 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 0.30 / 1. The record also includes published literature and structural context.
Q32* (p.Gln32Ter) variant details
- p.Gln32Ter
- rs1831176210
- ClinGen CA374340347
- ClinVar RCV004520553
- Ensembl rs1831176210
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.00
- PolyPhen-2 0.01
- SIFT 1.00
- EVE 0.21
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)