M10K (p.Met10Lys) variant of RAD51C (O43502)
M10K (p.Met10Lys) 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 0.44 / 1. The record also includes published literature and structural context.
M10K (p.Met10Lys) variant details
- p.Met10Lys
- rs730881936
- ClinGen CA400336390
- ClinVar RCV003043803
- ExAC rs730881936
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.36
- MetaLR 0.28
- MetaSVM -0.87
- PolyPhen-2 1.00
- SIFT 0.03
- MutPred 0.45
- 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)