R2319S (p.Arg2319Ser) variant of CHD7 (Q9P2D1)
R2319S (p.Arg2319Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
R2319S (p.Arg2319Ser) variant details
- p.Arg2319Ser
- rs121434341
- ClinGen CA252056
- ClinVar RCV000002105
- UniProt VAR 033250
- Pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.83
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 0.96
- CADD 25.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (CHARGE syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Population evidence available
- Structural context available
- Cited in: Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. (PMID 16400610)
- Cited in: CHD7 Disorder. (PMID 20301296)