A39T (p.Ala39Thr) variant of FANCC (Fanconi anemia group C protein)
A39T (p.Ala39Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs2136100841
- ClinGen CA374340303
- ClinVar RCV002373300
- Ensembl rs2136100841
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.37
- EVE 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)