N2588S (p.Asn2588Ser) variant of CHD7 (Q9P2D1)
N2588S (p.Asn2588Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
N2588S (p.Asn2588Ser) variant details
- p.Asn2588Ser
- rs1554606033
- ClinGen CA371304642
- ClinVar RCV000537112
- Ensembl rs1554606033
- Pathogenic
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.30
- MetaLR 0.10
- MetaSVM -1.03
- PolyPhen-2 0.03
- SIFT 0.28
- EVE 0.14
- ClinVar: Pathogenic (CHARGE syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)