G1802S (p.Gly1802Ser) variant of CHD7 (Q9P2D1)
G1802S (p.Gly1802Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G1802S (p.Gly1802Ser) variant details
- p.Gly1802Ser
- rs1554603293
- ClinGen CA371321353
- ClinVar RCV000578161
- Ensembl rs1554603293
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.90
- MetaLR 0.91
- MetaSVM 1.00
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic (in CHARGES)
- UniProt: Likely pathogenic (in CHARGES)
- Population evidence available
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)