G1845E (p.Gly1845Glu) variant of CHD7 (Q9P2D1)
G1845E (p.Gly1845Glu) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
G1845E (p.Gly1845Glu) variant details
- p.Gly1845Glu
- rs985812567
- ClinGen CA371321840
- ClinVar RCV003499949
- TOPMed rs985812567
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.48
- MetaLR 0.44
- MetaSVM -0.31
- CADD 27.20
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)