T20S (p.Thr20Ser) variant of CFTR (P13569)
T20S (p.Thr20Ser) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T20S (p.Thr20Ser) variant details
- p.Thr20Ser
- gnomAD rs1408253313
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.53
- MetaSVM -0.39
- CADD 21.30
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available