L7F (p.Leu7Phe) variant of CD3D (P04234)
L7F (p.Leu7Phe) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- rs1357653391
- ClinGen CA382790655
- ClinVar RCV001347301
- TOPMed rs1357653391
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.34
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available