M1V (p.Met1Val) variant of CD4 (T-cell surface glycoprotein CD4)
M1V (p.Met1Val) in CD4 (T-cell surface glycoprotein CD4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Immunodeficiency 79. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs200294737
- ClinGen CA6415649
- ClinVar RCV001353065
- Pathogenic
- Immunodeficiency 79
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- MetaLR 0.26
- MetaSVM -0.57
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Immunodeficiency 79)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. (PMID 33471124)