G2108R (p.Gly2108Arg) variant of CHD7 (Q9P2D1)
G2108R (p.Gly2108Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CHD7-related CHARGE syndrome; not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G2108R (p.Gly2108Arg) variant details
- p.Gly2108Arg
- rs121434343
- ClinGen CA252062
- ClinVar RCV000002110
- ClinVar RCV004721240
- Pathogenic/Likely pathogenic
- CHD7-related CHARGE syndrome; not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (CHD7-related CHARGE syndrome; not provided; CHARGE syndrome)
- EBI: Pathogenic (in CHARGES and HH5)
- UniProt: Pathogenic (in CHARGES and HH5)
- Structural context available
- Cited in: Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. (PMID 18074359)
- Cited in: CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. (PMID 20453063)