G23S (p.Gly23Ser) variant of CHD7 (Q9P2D1)
G23S (p.Gly23Ser) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G23S (p.Gly23Ser) variant details
- p.Gly23Ser
- rs763058890
- ClinGen CA4759257
- ClinVar RCV001060152
- ExAC rs763058890
- Likely benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.04
- MetaLR 0.11
- MetaSVM -1.02
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Likely benign (CHARGE syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -1.1
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)