K14F (p.Lys14Phe) variant of CFTR (P13569)
K14F (p.Lys14Phe) in CFTR (P13569) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
K14F (p.Lys14Phe) variant details
- p.Lys14Phe
- gnomAD 7-117480133-CAAAC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.823
- CADD 32.00
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Literature evidence available