T27I (p.Thr27Ile) variant of FANCC (Fanconi anemia group C protein)
T27I (p.Thr27Ile) 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 Hereditary cancer-predisposing syndrome; Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- rs1489419613
- ClinGen CA374340379
- ClinVar RCV000702909
- ClinVar RCV001027176
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.14
- AlphaMissense 0.11
- MetaLR 0.08
- MetaSVM -1.02
- CADD 22.80
- PolyPhen-2 0.32
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)