R8K (p.Arg8Lys) variant of CD4 (T-cell surface glycoprotein CD4)
R8K (p.Arg8Lys) in CD4 (T-cell surface glycoprotein CD4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- rs1942496285
- gnomAD 12-6800159-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.47
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available