T5M (p.Thr5Met) variant of CD3D (P04234)
T5M (p.Thr5Met) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T5M (p.Thr5Met) variant details
- p.Thr5Met
- rs200390025
- ClinGen CA6302031
- ClinVar RCV004435450
- 1000Genomes rs200390025
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.08
- CADD 6.84
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Likely benign (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- 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)