G68V (p.Gly68Val) variant of FANCC (Fanconi anemia group C protein)
G68V (p.Gly68Val) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
G68V (p.Gly68Val) variant details
- p.Gly68Val
- rs769200374
- ClinGen CA374340087
- ClinVar RCV003368126
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.17
- MetaLR 0.17
- MetaSVM -0.89
- PolyPhen-2 0.01
- SIFT 0.11
- EVE 0.28
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)