R2065C (p.Arg2065Cys) variant of CHD7 (Q9P2D1)
R2065C (p.Arg2065Cys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; CHD7-related CHARGE syndrome; Hypogonadotropic hypogonadism 5 with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
R2065C (p.Arg2065Cys) variant details
- p.Arg2065Cys
- rs1064794250
- ClinGen CA371324412
- NCI-TCGA Cosmic COSV1014
- ClinVar RCV001329010
- Pathogenic/Likely pathogenic
- not provided; CHD7-related CHARGE syndrome; Hypogonadotropic hypogonadism 5 with
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.60
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Pathogenic/Likely pathogenic (not provided; CHD7-related CHARGE syndrome; Hypogonadotropic hyp)
- EBI: Pathogenic (in HH5)
- UniProt: Pathogenic (in HH5)
- Structural context available
- Cited in: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in… (PMID 25077900)
- Cited in: CHD7 Disorder. (PMID 20301296)