D44I (p.Asp44Ile) variant of CFTR (P13569)
D44I (p.Asp44Ile) in CFTR (P13569) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
D44I (p.Asp44Ile) variant details
- p.Asp44Ile
- gnomAD 7-117504328-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 29.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available