K23Q (p.Lys23Gln) variant of CD3D (P04234)
K23Q (p.Lys23Gln) 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 0.06 / 1. The record also includes population frequency data and structural context.
K23Q (p.Lys23Gln) variant details
- p.Lys23Gln
- rs199969175
- ClinGen CA6301994
- ClinVar RCV001874363
- ExAC rs199969175
- Uncertain significance
- Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.0649
- REVEL 0.07
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available