E33G (p.Glu33Gly) variant of ADNP (Q9H2P0)
E33G (p.Glu33Gly) in ADNP (Q9H2P0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E33G (p.Glu33Gly) variant details
- p.Glu33Gly
- rs1982225871
- ClinGen CA408982173
- ClinVar RCV004378056
- TOPMed rs1982225871
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- CADD 29.00
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- ADNP Homeobox domain domainome 1.0: score -0.381
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)