Q40H (p.Gln40His) variant of FANCC (Fanconi anemia group C protein)
Q40H (p.Gln40His) 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; not provided; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
Q40H (p.Gln40His) variant details
- p.Gln40His
- rs905858585
- ClinGen CA196922572
- ClinVar RCV001303767
- ClinVar RCV002357104
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- AlphaMissense 0.16
- MetaLR 0.09
- MetaSVM -1.05
- PolyPhen-2 0.48
- SIFT 0.08
- EVE 0.52
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fanconi a)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)