I26V (p.Ile26Val) variant of CD3D (P04234)
I26V (p.Ile26Val) 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 0.08 / 1. The record also includes population frequency data and structural context.
I26V (p.Ile26Val) variant details
- p.Ile26Val
- rs201374139
- ClinGen CA229522885
- ClinVar RCV000651982
- TOPMed rs201374139
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0842
- REVEL 0.04
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available