K4N (p.Lys4Asn) variant of RAD51C (O43502)
K4N (p.Lys4Asn) 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 0.31 / 1. The record also includes published literature and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- rs781166242
- ClinGen CA400336144
- ClinVar RCV002811407
- ExAC rs781166242
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.01
- PolyPhen-2 0.01
- SIFT 0.05
- MutPred 0.22
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)