I40I (p.Ile40Ile) variant of CFTR (P13569)
I40I (p.Ile40Ile) in CFTR (P13569) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
I40I (p.Ile40Ile) variant details
- p.Ile40Ile
- rs376538363
- gnomAD 7-117504319-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 5.53
- Population evidence available
- Structural context available
- Literature evidence available