T20A (p.Thr20Ala) variant of CFTR (P13569)
T20A (p.Thr20Ala) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T20A (p.Thr20Ala) variant details
- p.Thr20Ala
- TOPMed rs1395987138
- gnomAD rs1395987138
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.41
- MetaSVM -0.65
- CADD 21.50
- Population evidence available
- Structural context available