K26T (p.Lys26Thr) variant of CFTR (P13569)
K26T (p.Lys26Thr) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K26T (p.Lys26Thr) variant details
- p.Lys26Thr
- gnomAD 7-117504276-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.85
- MetaSVM 0.70
- CADD 26.30
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available