A51D (p.Ala51Asp) variant of FANCC (Fanconi anemia group C protein)
A51D (p.Ala51Asp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
A51D (p.Ala51Asp) variant details
- p.Ala51Asp
- rs1831171292
- ClinGen CA374340214
- ClinVar RCV002400843
- ClinVar RCV003235719
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.06
- SIFT 0.34
- EVE 0.19
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)