D13H (p.Asp13His) variant of RAD51C (O43502)
D13H (p.Asp13His) 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 0.34 / 1. The record also includes published literature and structural context.
D13H (p.Asp13His) variant details
- p.Asp13His
- rs1060502603
- ClinGen CA16615434
- ClinVar RCV000466259
- Ensembl rs1060502603
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- AlphaMissense 0.15
- MetaLR 0.15
- MetaSVM -0.87
- PolyPhen-2 0.41
- SIFT 0.02
- MutPred 0.50
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)