K26I (p.Lys26Ile) variant of CFTR (P13569)
K26I (p.Lys26Ile) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
K26I (p.Lys26Ile) variant details
- p.Lys26Ile
- gnomAD rs1798377816
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.74
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.86
- MetaSVM 0.74
- CADD 31.00
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available