R2319C (p.Arg2319Cys) variant of CHD7 (Q9P2D1)
R2319C (p.Arg2319Cys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHD7-related CHARGE syndrome; not provided; Joubert syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R2319C (p.Arg2319Cys) variant details
- p.Arg2319Cys
- rs121434341
- ClinGen CA10581478
- ClinVar RCV000224986
- ClinVar RCV001731455
- Pathogenic
- CHD7-related CHARGE syndrome; not provided; Joubert syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.98
- MetaLR 0.90
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (CHD7-related CHARGE syndrome; not provided; Joubert syndrome)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: CHD7 gene and non-syndromic cleft lip and palate. (PMID 16763960)
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)