F44V (p.Phe44Val) variant of FANCC (Fanconi anemia group C protein)
F44V (p.Phe44Val) in FANCC (Fanconi anemia group C protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
F44V (p.Phe44Val) variant details
- p.Phe44Val
- gnomAD rs1831172988
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.72
- CADD 26.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available