N1030T (p.Asn1030Thr) variant of CHD7 (Q9P2D1)
N1030T (p.Asn1030Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
N1030T (p.Asn1030Thr) variant details
- p.Asn1030Thr
- rs886041167
- ClinGen CA371309836
- ClinVar RCV000659298
- Ensembl rs886041167
- Uncertain significance
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.91
- AlphaMissense 0.97
- MetaLR 0.90
- MetaSVM 1.02
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (CHARGE syndrome)
- EBI: Pathogenic (in HH5)
- UniProt: Pathogenic (in HH5)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)