R1345H (p.Arg1345His) variant of CHD7 (Q9P2D1)
R1345H (p.Arg1345His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R1345H (p.Arg1345His) variant details
- p.Arg1345His
- rs1804766911
- UniProt VAR 068398
- TOPMed rs1804766911
- Pathogenic/Likely pathogenic
- CHARGE syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.91
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.09
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (CHARGE syndrome; not provided)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Population evidence available
- Structural context available
- Cited in: Mutation update on the CHD7 gene involved in CHARGE syndrome. (PMID 22461308)
- Cited in: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PMID 15300250)