S44C (p.Ser44Cys) variant of TLR8 (Toll-like receptor 8)
S44C (p.Ser44Cys) in TLR8 (Toll-like receptor 8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S44C (p.Ser44Cys) variant details
- p.Ser44Cys
- rs1468707465
- gnomAD X-12919170-TCA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 13.00
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available