V21A (p.Val21Ala) variant of FANCC (Fanconi anemia group C protein)
V21A (p.Val21Ala) 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 0.29 / 1. The record also includes published literature and structural context.
V21A (p.Val21Ala) variant details
- p.Val21Ala
- rs746117016
- ClinGen CA16618895
- ClinVar RCV000483808
- ClinVar RCV005831612
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.10
- 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)