V23L (p.Val23Leu) variant of RAD51C (O43502)
V23L (p.Val23Leu) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- rs1386696811
- ClinGen CA400336845
- ClinVar RCV004522584
- ClinGen CA400336854
- Benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.15
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.47
- EVE 0.14
- ClinVar: Benign (Hereditary cancer-predisposing syndrome)
- EBI: Benign
- UniProt: Benign
- 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)