G137D (p.Gly137Asp) variant of CHD8 (Q9HCK8)
G137D (p.Gly137Asp) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Intellectual developmental disorder with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
G137D (p.Gly137Asp) variant details
- p.Gly137Asp
- rs752288417
- ClinGen CA257558505
- ClinVar RCV001197546
- ClinVar RCV003770210
- Uncertain significance
- Inborn genetic diseases; not provided; Intellectual developmental disorder with
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Intellectual developmenta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)