G68D (p.Gly68Asp) variant of FANCC (Fanconi anemia group C protein)
G68D (p.Gly68Asp) in FANCC (Fanconi anemia group C protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G68D (p.Gly68Asp) variant details
- p.Gly68Asp
- ExAC rs769200374
- gnomAD rs769200374
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.24
- AlphaMissense 0.17
- MetaLR 0.17
- MetaSVM -0.89
- CADD 14.60
- PolyPhen-2 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available