H81R (p.His81Arg) variant of CHD7 (Q9P2D1)
H81R (p.His81Arg) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
H81R (p.His81Arg) variant details
- p.His81Arg
- ExAC rs764798609
- TOPMed rs764798609
- gnomAD rs764798609
- Uncertain significance
- CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.46
- MetaLR 0.32
- MetaSVM -0.33
- CADD 23.30
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available