K91Q (p.Lys91Gln) variant of SCN5A (Nav1.5)
K91Q (p.Lys91Gln) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
K91Q (p.Lys91Gln) variant details
- p.Lys91Gln
- rs1553607519
- ClinGen CA352157717
- ClinVar RCV003711673
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- ESM-1b 1.00
- AlphaMissense 0.26
- CADD 39.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available