D1812E (p.Asp1812Glu) variant of CHD7 (Q9P2D1)
D1812E (p.Asp1812Glu) 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 0.85 / 1. The record also includes published literature and structural context.
D1812E (p.Asp1812Glu) variant details
- p.Asp1812Glu
- rs1586440484
- ClinGen CA371321558
- ClinVar RCV000999041
- Ensembl rs1586440484
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.95
- MetaLR 0.83
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic (in CHARGES)
- UniProt: Likely pathogenic (in CHARGES)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)