T20I (p.Thr20Ile) variant of CFTR (P13569)
T20I (p.Thr20Ile) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- gnomAD 7-117504258-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.48
- MetaSVM -0.34
- CADD 17.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available