G1684S (p.Gly1684Ser) variant of CHD7 (Q9P2D1)
G1684S (p.Gly1684Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
G1684S (p.Gly1684Ser) variant details
- p.Gly1684Ser
- rs1554602465
- ClinGen CA371320188
- ClinVar RCV000623724
- ClinVar RCV001382047
- Pathogenic
- Inborn genetic diseases; not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.91
- MetaLR 0.83
- MetaSVM 0.78
- PolyPhen-2 0.99
- SIFT 0.02
- MutPred 0.77
- ClinVar: Pathogenic (Inborn genetic diseases; not provided; CHARGE syndrome)
- EBI: Pathogenic (in CHARGES and HH5)
- UniProt: Pathogenic (in CHARGES and HH5)
- Structural context available
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)
- Cited in: Mutation update on the CHD7 gene involved in CHARGE syndrome. (PMID 22461308)