Q31* (p.Gln31Ter) variant of FANCC (Fanconi anemia group C protein)
Q31* (p.Gln31Ter) in FANCC (Fanconi anemia group C protein) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- ExAC rs747616516
- gnomAD rs747616516
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available