R1915Q (p.Arg1915Gln) variant of CHD7 (Q9P2D1)
R1915Q (p.Arg1915Gln) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R1915Q (p.Arg1915Gln) variant details
- p.Arg1915Gln
- rs1024600310
- ClinGen CA177353755
- ClinVar RCV002274455
- TOPMed rs1024600310
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.89
- MetaLR 0.87
- MetaSVM 0.91
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)