E22G (p.Glu22Gly) variant of CHD7 (Q9P2D1)
E22G (p.Glu22Gly) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E22G (p.Glu22Gly) variant details
- p.Glu22Gly
- TOPMed rs1361545618
- gnomAD rs1361545618
- Uncertain significance
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.40
- MetaLR 0.40
- MetaSVM -0.20
- CADD 27.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -1.03