N1030S (p.Asn1030Ser) variant of CHD7 (Q9P2D1)
N1030S (p.Asn1030Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHARGE syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
N1030S (p.Asn1030Ser) variant details
- p.Asn1030Ser
- rs886041167
- ClinGen CA10602996
- ClinVar RCV000390246
- ClinVar RCV001341361
- Pathogenic
- CHARGE syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Pathogenic (CHARGE syndrome; not provided)
- EBI: Pathogenic (in HH5)
- UniProt: Pathogenic (in HH5)
- Structural context available
- Cited in: The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in… (PMID 25077900)
- Cited in: CHD7 Disorder. (PMID 20301296)