M28L (p.Met28Leu) variant of CD3E (P07766)
M28L (p.Met28Leu) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 18; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
M28L (p.Met28Leu) variant details
- p.Met28Leu
- rs759815699
- ClinGen CA6301588
- ClinVar RCV001103936
- ClinVar RCV005520440
- Uncertain significance
- Immunodeficiency 18; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0662
- REVEL 0.01
- MetaLR 0.05
- MetaSVM -1.04
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (Immunodeficiency 18; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- 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)