H55R (p.His55Arg) variant of CHD7 (Q9P2D1)
H55R (p.His55Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
H55R (p.His55Arg) variant details
- p.His55Arg
- rs121434345
- ClinGen CA252065
- ClinVar RCV000002116
- ClinVar RCV003497830
- Benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.27
- MetaLR 0.09
- MetaSVM -0.81
- CADD 23.10
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Benign (CHARGE syndrome)
- EBI: Pathogenic (in HH5)
- UniProt: Pathogenic (in HH5)
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Cited in: Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann… (PMID 18834967)
- Cited in: CHD7 Disorder. (PMID 20301296)