I620F (p.Ile620Phe) variant of RAD21 (O60216)
I620F (p.Ile620Phe) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cornelia de Lange syndrome 4. The record also includes variant effect predictions, published literature, and structural context.
I620F (p.Ile620Phe) variant details
- p.Ile620Phe
- rs764118613
- ClinGen CA371988782
- ClinVar RCV001976645
- ExAC rs764118613
- Likely pathogenic
- Cornelia de Lange syndrome 4
- Missense
- MutPred 0.66
- ClinVar: Likely pathogenic (Cornelia de Lange syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)