A22G (p.Ala22Gly) variant of RAD51C (O43502)
A22G (p.Ala22Gly) 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 0.28 / 1. The record also includes published literature and structural context.
A22G (p.Ala22Gly) variant details
- p.Ala22Gly
- rs2143676047
- ClinGen CA400336837
- ClinVar RCV003507522
- Ensembl rs2143676047
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- AlphaMissense 0.11
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.09
- EVE 0.11
- 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)