R1743C (p.Arg1743Cys) variant of CHD7 (Q9P2D1)
R1743C (p.Arg1743Cys) 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 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R1743C (p.Arg1743Cys) variant details
- p.Arg1743Cys
- rs1805311016
- ClinGen CA371320788
- ClinVar RCV003603629
- Ensembl rs1805311016
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.79
- MetaLR 0.79
- MetaSVM 0.75
- CADD 28.60
- PolyPhen-2 0.97
- 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)