I1028V (p.Ile1028Val) variant of CHD7 (Q9P2D1)
I1028V (p.Ile1028Val) 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; not provided; Hypogonadotropic hypogonadism 5 with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
I1028V (p.Ile1028Val) variant details
- p.Ile1028Val
- rs121434338
- ClinGen CA223285
- ClinVar RCV000002100
- ClinVar RCV000081828
- Pathogenic/Likely pathogenic
- CHD7-related CHARGE syndrome; not provided; Hypogonadotropic hypogonadism 5 with
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.30
- MetaLR 0.79
- MetaSVM 0.81
- PolyPhen-2 0.75
- SIFT 0.05
- EVE 0.33
- ClinVar: Pathogenic/Likely pathogenic (CHD7-related CHARGE syndrome; not provided; Hypogonadotropic hyp)
- EBI: Pathogenic (in CHARGES)
- UniProt: Pathogenic (in CHARGES)
- Structural context available
- Cited in: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PMID 15300250)
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)