Q40R (p.Gln40Arg) variant of FANCC (Fanconi anemia group C protein)
Q40R (p.Gln40Arg) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar 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 0.10 / 1. The record also includes population frequency data and structural context.
Q40R (p.Gln40Arg) variant details
- p.Gln40Arg
- cosmic curated COSV56666
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0985
- REVEL 0.08
- CADD 7.56
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available