E51K (p.Glu51Lys) variant of CFTR (P13569)
E51K (p.Glu51Lys) in CFTR (P13569) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- NCI-TCGA Cosmic COSV5004
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- ESM-1b 0.00
- AlphaMissense 0.54
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available