H68Y (p.His68Tyr) variant of CHD7 (Q9P2D1)
H68Y (p.His68Tyr) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H68Y (p.His68Tyr) variant details
- p.His68Tyr
- rs886063032
- ClinGen CA10631362
- ClinVar RCV000292236
- ClinVar RCV002524570
- Uncertain significance
- CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.14
- MetaLR 0.23
- MetaSVM -0.67
- CADD 24.30
- 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 1.5e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)