F15L (p.Phe15Leu) variant of KCNE2 (Q9Y6J6)
F15L (p.Phe15Leu) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F15L (p.Phe15Leu) variant details
- p.Phe15Leu
- gnomAD rs1323358344
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.80
- MetaLR 0.60
- MetaSVM 0.19
- CADD 17.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available