T66R (p.Thr66Arg) variant of FANCC (Fanconi anemia group C protein)
T66R (p.Thr66Arg) 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 0.34 / 1. The record also includes population frequency data and structural context.
T66R (p.Thr66Arg) variant details
- p.Thr66Arg
- ExAC rs762234072
- gnomAD rs762234072
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.56
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available