C1101R (p.Cys1101Arg) variant of CHD7 (Q9P2D1)
C1101R (p.Cys1101Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of CHD7-related CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
C1101R (p.Cys1101Arg) variant details
- p.Cys1101Arg
- rs1586393556
- ClinGen CA371312206
- ClinVar RCV000851195
- ClinVar RCV001528422
- Pathogenic/Likely pathogenic
- CHD7-related CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without an
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (CHD7-related CHARGE syndrome; Hypogonadotropic hypogonadism 5 wi)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: Mutation update on the CHD7 gene involved in CHARGE syndrome. (PMID 22461308)
- Cited in: CHD7 Disorder. (PMID 20301296)