G31A (p.Gly31Ala) variant of RAD51C (O43502)
G31A (p.Gly31Ala) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- rs587781441
- ClinGen CA400337211
- ClinVar RCV003873953
- gnomAD rs587781441
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.57
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)