D56A (p.Asp56Ala) variant of FANCC (Fanconi anemia group C protein)
D56A (p.Asp56Ala) 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 0.46 / 1. The record also includes published literature and structural context.
D56A (p.Asp56Ala) variant details
- p.Asp56Ala
- rs759662786
- ClinGen CA374340168
- ClinVar RCV003301943
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.26
- MetaLR 0.25
- MetaSVM -0.61
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.65
- 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)