K8K (p.Lys8Lys) variant of CFTR (P13569)
K8K (p.Lys8Lys) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- rs1800071
- gnomAD 7-117480118-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 13.10
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available
- Cited in: Association of pro-inflammatory and anti-inflammatory cytokine polymorphisms with COVID-19 severity in unvaccinated… (PMID 40881695)