F19L (p.Phe19Leu) variant of KCNE2 (Q9Y6J6)
F19L (p.Phe19Leu) in KCNE2 (Q9Y6J6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
F19L (p.Phe19Leu) variant details
- p.Phe19Leu
- rs762880940
- gnomAD 21-34370530-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available