Q3L (p.Gln3Leu) variant of FANCC (Fanconi anemia group C protein)
Q3L (p.Gln3Leu) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q3L (p.Gln3Leu) variant details
- p.Gln3Leu
- gnomAD rs1415268424
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- CADD 23.50
- PolyPhen-2 0.60
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available