D4E (p.Asp4Glu) variant of FANCC (Fanconi anemia group C protein)
D4E (p.Asp4Glu) in FANCC (Fanconi anemia group C protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
D4E (p.Asp4Glu) variant details
- p.Asp4Glu
- TOPMed rs1312670504
- Missense
- Variant Prioritization Score for Impact Estimate 0.0584
- REVEL 0.06
- CADD 0.69
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available