E871D (p.Glu871Asp) variant of CHD7 (Q9P2D1)
E871D (p.Glu871Asp) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
E871D (p.Glu871Asp) variant details
- p.Glu871Asp
- rs2150739129
- ClinGen CA371306404
- ClinVar RCV001376003
- UniProt VAR 068117
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.39
- MetaLR 0.41
- MetaSVM -0.50
- CADD 28.60
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Population evidence available
- Structural context available
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)
- Cited in: CHD7 Disorder. (PMID 20301296)