I41V (p.Ile41Val) variant of CD3D (P04234)
I41V (p.Ile41Val) 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 0.32 / 1. The record also includes structural context.
I41V (p.Ile41Val) variant details
- p.Ile41Val
- rs886047737
- ClinGen CA10637744
- ClinVar RCV000274343
- Ensembl rs886047737
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.07
- MetaLR 0.11
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.41
- MutPred 0.45
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available