V19A (p.Val19Ala) variant of CDC73 (Parafibromin)
V19A (p.Val19Ala) in CDC73 (Parafibromin) 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 0.44 / 1. The record also includes published literature and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- rs2103111676
- ClinGen CA343972846
- ClinVar RCV003310133
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.59
- MetaLR 0.43
- MetaSVM -0.36
- PolyPhen-2 0.04
- SIFT 0.13
- EVE 0.27
- 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)