Q18K (p.Gln18Lys) variant of CD3D (P04234)
Q18K (p.Gln18Lys) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- rs141902449
- ClinGen CA6302021
- ClinVar RCV000651981
- 1000Genomes rs141902449
- Likely benign
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Likely benign (Immunodeficiency 19)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available