T20N (p.Thr20Asn) variant of CFTR (P13569)
T20N (p.Thr20Asn) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
T20N (p.Thr20Asn) variant details
- p.Thr20Asn
- gnomAD 7-117504258-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.43
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.74
- MetaSVM 0.38
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available