Q3P (p.Gln3Pro) variant of FANCC (Fanconi anemia group C protein)
Q3P (p.Gln3Pro) 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 not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q3P (p.Gln3Pro) variant details
- p.Gln3Pro
- rs1415268424
- ClinGen CA374340538
- ClinVar RCV000529824
- ClinVar RCV001556604
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.26
- CADD 23.00
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Fanconi a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)