Q40E (p.Gln40Glu) variant of FANCC (Fanconi anemia group C protein)
Q40E (p.Gln40Glu) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
Q40E (p.Gln40Glu) variant details
- p.Gln40Glu
- rs1588353456
- ClinGen CA374340296
- cosmic curated COSV10731
- ClinVar RCV001010233
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.03
- PolyPhen-2 0.01
- SIFT 0.43
- EVE 0.18
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)