A30P (p.Ala30Pro) variant of RAD51C (O43502)
A30P (p.Ala30Pro) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- rs1331134740
- ClinGen CA400337137
- ClinVar RCV001319449
- ClinVar RCV004034970
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.92
- MetaLR 0.29
- MetaSVM -0.50
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.80
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)