T66I (p.Thr66Ile) variant of FANCC (Fanconi anemia group C protein)
T66I (p.Thr66Ile) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T66I (p.Thr66Ile) variant details
- p.Thr66Ile
- rs762234072
- ClinGen CA5137806
- ClinVar RCV001300254
- ExAC rs762234072
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.05
- CADD 19.10
- PolyPhen-2 0.04
- SIFT 0.16
- ClinVar: Uncertain significance (Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)