A74G (p.Ala74Gly) variant of FANCC (Fanconi anemia group C protein)
A74G (p.Ala74Gly) in FANCC (Fanconi anemia group C protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A74G (p.Ala74Gly) variant details
- p.Ala74Gly
- ExAC rs745549619
- gnomAD rs745549619
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.10
- CADD 18.30
- PolyPhen-2 0.14
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available