R1399G (p.Arg1399Gly) variant of CHD7 (Q9P2D1)
R1399G (p.Arg1399Gly) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1399G (p.Arg1399Gly) variant details
- p.Arg1399Gly
- rs1586419356
- ClinGen CA371317659
- ClinVar RCV000988065
- Ensembl rs1586419356
- Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.95
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (CHARGE syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)