H68N (p.His68Asn) variant of CHD7 (Q9P2D1)
H68N (p.His68Asn) 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 0.37 / 1. The record also includes population frequency data and structural context.
H68N (p.His68Asn) variant details
- p.His68Asn
- gnomAD rs886063032
- Uncertain significance
- CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.12
- MetaLR 0.21
- MetaSVM -0.89
- CADD 23.00
- PolyPhen-2 0.93
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available