L10V (p.Leu10Val) variant of CD3D (P04234)
L10V (p.Leu10Val) 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 0.34 / 1. The record also includes population frequency data and structural context.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- rs758632643
- ClinGen CA6302028
- ClinVar RCV001365244
- ExAC rs758632643
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.26
- CADD 16.00
- PolyPhen-2 0.73
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available