S16N (p.Ser16Asn) variant of RAD51C (O43502)
S16N (p.Ser16Asn) 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 0.38 / 1. The record also includes published literature and structural context.
S16N (p.Ser16Asn) variant details
- p.Ser16Asn
- rs1555591843
- ClinGen CA400336624
- NCI-TCGA Cosmic COSV5362
- ClinVar RCV000648268
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.32
- MetaLR 0.15
- MetaSVM -0.83
- PolyPhen-2 0.76
- SIFT 0.02
- MutPred 0.42
- 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)