D70H (p.Asp70His) variant of CHD7 (Q9P2D1)
D70H (p.Asp70His) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
D70H (p.Asp70His) variant details
- p.Asp70His
- rs759847780
- ClinGen CA4759274
- ClinVar RCV001162204
- ClinVar RCV002557384
- Likely benign
- Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.21
- MetaLR 0.24
- MetaSVM -0.60
- CADD 25.70
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely benign (Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)