L19Q (p.Leu19Gln) variant of RAD51C (O43502)
L19Q (p.Leu19Gln) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- rs1598448973
- ClinGen CA400336719
- ClinVar RCV003056406
- TOPMed rs1598448973
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- AlphaMissense 0.78
- MetaLR 0.36
- MetaSVM -0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)