K26N (p.Lys26Asn) variant of CFTR (P13569)
K26N (p.Lys26Asn) in CFTR (P13569) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
K26N (p.Lys26Asn) variant details
- p.Lys26Asn
- TOPMed rs1379722065
- gnomAD rs1379722065
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.59
- ESM-1b 0.37
- AlphaMissense 0.69
- MetaLR 0.87
- MetaSVM 0.80
- CADD 25.00
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available