F62L (p.Phe62Leu) variant of KCNE2 (Q9Y6J6)
F62L (p.Phe62Leu) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F62L (p.Phe62Leu) variant details
- p.Phe62Leu
- gnomAD 21-34370664-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.97
- MetaLR 0.89
- MetaSVM 0.95
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available