R1345C (p.Arg1345Cys) variant of CHD7 (Q9P2D1)
R1345C (p.Arg1345Cys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R1345C (p.Arg1345Cys) variant details
- p.Arg1345Cys
- rs1563644113
- ClinGen CA371316656
- ClinVar RCV000689551
- ClinVar RCV001731891
- Conflicting interpretations
- not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.93
- MetaLR 0.93
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; CHARGE syndrome)
- EBI: Likely pathogenic (in CHARGES and HH5)
- UniProt: Likely pathogenic (in CHARGES and HH5)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)
- Cited in: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in… (PMID 25077900)