T197I (p.Thr197Ile) variant of RAD51 (Q06609)
T197I (p.Thr197Ile) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group R. The record also includes published literature and structural context.
T197I (p.Thr197Ile) variant details
- p.Thr197Ile
- rs2504524090
- ClinGen CA391757313
- ClinVar RCV003225638
- Likely pathogenic
- Fanconi anemia complementation group R
- Missense
- ClinVar: Likely pathogenic (Fanconi anemia complementation group R)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)