Q40L (p.Gln40Leu) variant of FANCC (Fanconi anemia group C protein)
Q40L (p.Gln40Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
Q40L (p.Gln40Leu) variant details
- p.Gln40Leu
- gnomAD rs1368894079
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.11
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -1.06
- CADD 16.10
- PolyPhen-2 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available