I43V (p.Ile43Val) variant of CHD7 (Q9P2D1)
I43V (p.Ile43Val) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Hypogonadotropic hypogonadism 5 with or without anosmia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- rs201542180
- ClinGen CA4759266
- ClinVar RCV000862090
- ClinVar RCV001162203
- Conflicting interpretations
- Inborn genetic diseases; Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.11
- MetaLR 0.12
- MetaSVM -0.96
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Hypogonadotropic hypogonadism 5 with or)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)