P18R (p.Pro18Arg) variant of RAD51C (O43502)
P18R (p.Pro18Arg) 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.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- rs754498936
- ClinGen CA400336700
- NCI-TCGA Cosmic COSV9954
- cosmic curated COSV99543
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.28
- MetaLR 0.28
- MetaSVM -0.46
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.44
- 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)