S74F (p.Ser74Phe) variant of KCNE2 (Q9Y6J6)
S74F (p.Ser74Phe) in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S74F (p.Ser74Phe) variant details
- p.Ser74Phe
- gnomAD 21-34370699-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.90
- MetaSVM 0.99
- CADD 25.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available