V1208D (p.Val1208Asp) variant of CHD7 (Q9P2D1)
V1208D (p.Val1208Asp) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CHARGE syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
V1208D (p.Val1208Asp) variant details
- p.Val1208Asp
- rs886040988
- ClinGen CA10602494
- ClinVar RCV000258101
- ClinVar RCV000494643
- Pathogenic/Likely pathogenic
- CHARGE syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (CHARGE syndrome; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)
- Cited in: CHD7 Disorder. (PMID 20301296)