V25L (p.Val25Leu) variant of RAD51C (O43502)
V25L (p.Val25Leu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.33 / 1. The record also includes published literature and structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- rs757116652
- ClinGen CA400336967
- ClinVar RCV001036725
- ClinVar RCV001759937
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- AlphaMissense 0.23
- MetaLR 0.14
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.26
- EVE 0.18
- ClinVar: Conflicting classifications of pathogenicity (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)