A9T (p.Ala9Thr) variant of CFTR (P13569)
A9T (p.Ala9Thr) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
A9T (p.Ala9Thr) variant details
- p.Ala9Thr
- Ensembl rs1797977570
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.85
- ESM-1b 0.13
- AlphaMissense 0.67
- MetaLR 0.92
- MetaSVM 1.03
- SIFT 0.04
- Structural context available