Q40P (p.Gln40Pro) variant of FANCC (Fanconi anemia group C protein)
Q40P (p.Gln40Pro) 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 0.36 / 1. The record also includes published literature and structural context.
Q40P (p.Gln40Pro) variant details
- p.Gln40Pro
- rs1368894079
- ClinGen CA374340294
- ClinVar RCV001010256
- gnomAD rs1368894079
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -1.06
- PolyPhen-2 0.12
- SIFT 0.10
- EVE 0.58
- 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)