H2096R (p.His2096Arg) variant of CHD7 (Q9P2D1)
H2096R (p.His2096Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H2096R (p.His2096Arg) variant details
- p.His2096Arg
- rs587783451
- ClinGen CA271328
- ClinVar RCV000145684
- UniProt VAR 033249
- Pathogenic/Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.89
- MetaLR 0.54
- MetaSVM 0.18
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. (PMID 16400610)
- Cited in: CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome. (PMID 20453063)