K4R (p.Lys4Arg) variant of RAD51C (O43502)
K4R (p.Lys4Arg) 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 0.30 / 1. The record also includes published literature and structural context.
K4R (p.Lys4Arg) variant details
- p.Lys4Arg
- rs2047798678
- ClinGen CA400336138
- ClinVar RCV001874958
- Ensembl rs2047798678
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.18
- MetaLR 0.05
- MetaSVM -1.03
- PolyPhen-2 0.04
- SIFT 0.01
- MutPred 0.26
- 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)