I50I (p.Ile50Ile) variant of KCNE2 (Q9Y6J6)
I50I (p.Ile50Ile) in KCNE2 (Q9Y6J6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I50I (p.Ile50Ile) variant details
- p.Ile50Ile
- rs747232176
- gnomAD 21-34370628-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.326
- CADD 9.93
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available