Q972R (p.Gln972Arg) variant of CHD7 (Q9P2D1)
Q972R (p.Gln972Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
Q972R (p.Gln972Arg) variant details
- p.Gln972Arg
- rs1554597512
- ClinGen CA371308546
- ClinVar RCV000578177
- Ensembl rs1554597512
- Pathogenic/Likely pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Pathogenic/Likely pathogenic (CHARGE syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)