T114M (p.Thr114Met) variant of CHD8 (Q9HCK8)
T114M (p.Thr114Met) in CHD8 (Q9HCK8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and published literature.
T114M (p.Thr114Met) variant details
- p.Thr114Met
- rs111250264
- ClinGen CA7091970
- cosmic curated COSV10533
- ClinVar RCV000370260
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.017)
- 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)